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GENE - TERM ANNOTATION REPORT

30 Annotations Found.

An association has been curated linking TPP1 and neuronal ceroid lipofuscinosis in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred by association of genotype and phenotype with RGD:8624527 (Homo sapiens)
  • 207 RGD objects have been annotated to neuronal ceroid lipofuscinosis  (DOID:14503)
  • 4 papers in RGD have been used to annotate TPP1
  • Curation Notes: ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
  • Original References(s): PMID:10330339 PMID:24033266 PMID:25741868 PMID:28492532


    • An association has been curated linking TPP1 and neuronal ceroid lipofuscinosis in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred by association of genotype and phenotype with RGD:13790088 (Homo sapiens)
  • 207 RGD objects have been annotated to neuronal ceroid lipofuscinosis  (DOID:14503)
  • 4 papers in RGD have been used to annotate TPP1
  • Curation Notes: ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
  • Original References(s): PMID:10862088 PMID:25741868 PMID:28492532


    • An association has been curated linking TPP1 and neuronal ceroid lipofuscinosis in Homo sapiens.        

  • The association was inferred from experiment (EXP)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • 207 RGD objects have been annotated to neuronal ceroid lipofuscinosis  (DOID:14503)
  • 4 papers in RGD have been used to annotate TPP1
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:10320038 PMID:11589009


    • An association has been curated linking TPP1 and neuronal ceroid lipofuscinosis in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred by association of genotype and phenotype with RGD:8595858 (Homo sapiens)
  • 207 RGD objects have been annotated to neuronal ceroid lipofuscinosis  (DOID:14503)
  • 4 papers in RGD have been used to annotate TPP1
  • Curation Notes: ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
  • Original References(s): PMID:10330339 PMID:19038966 PMID:19038967 PMID:19246452 PMID:21990111 PMID:25326635 PMID:25741868 PMID:26075876 PMID:28492532 PMID:9295267 PMID:9788728


    • An association has been curated linking TPP1 and neuronal ceroid lipofuscinosis in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred by association of genotype and phenotype with RGD:8624531 (Homo sapiens)
  • 207 RGD objects have been annotated to neuronal ceroid lipofuscinosis  (DOID:14503)
  • 4 papers in RGD have been used to annotate TPP1
  • Curation Notes: ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
  • Original References(s): PMID:12414822 PMID:19038966 PMID:19038967 PMID:20340139 PMID:21990111 PMID:23418007 PMID:27553520 PMID:31283065


    • An association has been curated linking TPP1 and neuronal ceroid lipofuscinosis in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred by association of genotype and phenotype with RGD:10397065 (Homo sapiens)
  • 207 RGD objects have been annotated to neuronal ceroid lipofuscinosis  (DOID:14503)
  • 4 papers in RGD have been used to annotate TPP1
  • Curation Notes: ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
  • Original References(s): PMID:10330339 PMID:15965709 PMID:17576681 PMID:18411270 PMID:19038966 PMID:20340139 PMID:26633542 PMID:28492532 PMID:30119717 PMID:30771299 PMID:31489614 PMID:31741823 PMID:32146219 PMID:33348105 PMID:9536098


    • An association has been curated linking TPP1 and neuronal ceroid lipofuscinosis in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred by association of genotype and phenotype with RGD:10397067 (Homo sapiens)
  • 207 RGD objects have been annotated to neuronal ceroid lipofuscinosis  (DOID:14503)
  • 4 papers in RGD have been used to annotate TPP1
  • Curation Notes: ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
  • Original References(s): PMID:10330339 PMID:21990111 PMID:25741868 PMID:28492532 PMID:30792901


    • An association has been curated linking TPP1 and neuronal ceroid lipofuscinosis in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred by association of genotype and phenotype with RGD:8624520 (Homo sapiens)
  • 207 RGD objects have been annotated to neuronal ceroid lipofuscinosis  (DOID:14503)
  • 4 papers in RGD have been used to annotate TPP1
  • Curation Notes: ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
  • Original References(s): PMID:10330339 PMID:12376936 PMID:17576681 PMID:20340139 PMID:22612257 PMID:25356970 PMID:25741868 PMID:28492532 PMID:9536098


    • An association has been curated linking TPP1 and neuronal ceroid lipofuscinosis in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred by association of genotype and phenotype with RGD:10398476 (Homo sapiens)
  • 207 RGD objects have been annotated to neuronal ceroid lipofuscinosis  (DOID:14503)
  • 4 papers in RGD have been used to annotate TPP1
  • Curation Notes: ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
  • Original References(s): PMID:22612257 PMID:28492532 PMID:28554332 PMID:29655203


    • An association has been curated linking TPP1 and neuronal ceroid lipofuscinosis in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred by association of genotype and phenotype with RGD:13791598 (Homo sapiens)
  • 207 RGD objects have been annotated to neuronal ceroid lipofuscinosis  (DOID:14503)
  • 4 papers in RGD have been used to annotate TPP1
  • Curation Notes: ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
  • Original References(s): PMID:10330339 PMID:11589012 PMID:12125808 PMID:16199547 PMID:25525159 PMID:28492532 PMID:31283065 PMID:33604240


    • An association has been curated linking TPP1 and neuronal ceroid lipofuscinosis in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred by association of genotype and phenotype with RGD:10397087 (Homo sapiens)
  • 207 RGD objects have been annotated to neuronal ceroid lipofuscinosis  (DOID:14503)
  • 4 papers in RGD have been used to annotate TPP1
  • Curation Notes: ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
  • Original References(s): PMID:17576681 PMID:21990111 PMID:23266810 PMID:28492532 PMID:29655203 PMID:30119717 PMID:31440721 PMID:9536098


    • An association has been curated linking TPP1 and neuronal ceroid lipofuscinosis in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred by association of genotype and phenotype with RGD:8624530 (Homo sapiens)
  • 207 RGD objects have been annotated to neuronal ceroid lipofuscinosis  (DOID:14503)
  • 4 papers in RGD have been used to annotate TPP1
  • Curation Notes: ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
  • Original References(s): PMID:10665500 PMID:12698559 PMID:20340139 PMID:21990111 PMID:25741868 PMID:28492532 PMID:30541466


    • An association has been curated linking TPP1 and neuronal ceroid lipofuscinosis in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred by association of genotype and phenotype with RGD:10397063 (Homo sapiens)
  • 207 RGD objects have been annotated to neuronal ceroid lipofuscinosis  (DOID:14503)
  • 4 papers in RGD have been used to annotate TPP1
  • Curation Notes: ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
  • Original References(s): PMID:10330339 PMID:19793312 PMID:23266810 PMID:25741868 PMID:28492532


    • An association has been curated linking TPP1 and neuronal ceroid lipofuscinosis in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred by association of genotype and phenotype with RGD:8624523 (Homo sapiens)
  • 207 RGD objects have been annotated to neuronal ceroid lipofuscinosis  (DOID:14503)
  • 4 papers in RGD have been used to annotate TPP1
  • Curation Notes: ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
  • Original References(s): PMID:10330339 PMID:11054422 PMID:19038966 PMID:20340139 PMID:21990111 PMID:23266810 PMID:25741868 PMID:28492532 PMID:31139143 PMID:31489614


    • An association has been curated linking TPP1 and neuronal ceroid lipofuscinosis in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred by association of genotype and phenotype with RGD:156403148 (Homo sapiens)
  • 207 RGD objects have been annotated to neuronal ceroid lipofuscinosis  (DOID:14503)
  • 4 papers in RGD have been used to annotate TPP1
  • Curation Notes: ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
  • Original References(s): PMID:20820830 PMID:28492532 PMID:31059981 PMID:34120799 PMID:35796208


    • An association has been curated linking TPP1 and neuronal ceroid lipofuscinosis in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred by association of genotype and phenotype with RGD:13518121 (Homo sapiens)
  • 207 RGD objects have been annotated to neuronal ceroid lipofuscinosis  (DOID:14503)
  • 4 papers in RGD have been used to annotate TPP1
  • Curation Notes: ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
  • Original References(s): PMID:10330339 PMID:11339651 PMID:16199547 PMID:25525159 PMID:28492532


    • An association has been curated linking TPP1 and neuronal ceroid lipofuscinosis in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred by association of genotype and phenotype with RGD:8624526 (Homo sapiens)
  • 207 RGD objects have been annotated to neuronal ceroid lipofuscinosis  (DOID:14503)
  • 4 papers in RGD have been used to annotate TPP1
  • Curation Notes: ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
  • Original References(s): PMID:10330339 PMID:11589013 PMID:17576681 PMID:19038966 PMID:20340139 PMID:21990111 PMID:23418007 PMID:28492532 PMID:30119717 PMID:9536098


    • An association has been curated linking TPP1 and neuronal ceroid lipofuscinosis in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred by association of genotype and phenotype with RGD:8624528 (Homo sapiens)
  • 207 RGD objects have been annotated to neuronal ceroid lipofuscinosis  (DOID:14503)
  • 4 papers in RGD have been used to annotate TPP1
  • Curation Notes: ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
  • Original References(s): PMID:11339651 PMID:12376936 PMID:15317752 PMID:17576681 PMID:17679671 PMID:20340139 PMID:21990111 PMID:25741868 PMID:28165011 PMID:28492532 PMID:29631617 PMID:30119717 PMID:30771299 PMID:9536098


    • An association has been curated linking TPP1 and neuronal ceroid lipofuscinosis in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred by association of genotype and phenotype with RGD:10397070 (Homo sapiens)
  • 207 RGD objects have been annotated to neuronal ceroid lipofuscinosis  (DOID:14503)
  • 4 papers in RGD have been used to annotate TPP1
  • Curation Notes: ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
  • Original References(s): PMID:10330339 PMID:10356316 PMID:22344438 PMID:22832778 PMID:28492532


    • An association has been curated linking TPP1 and neuronal ceroid lipofuscinosis in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred by association of genotype and phenotype with RGD:13832668 (Homo sapiens)
  • 207 RGD objects have been annotated to neuronal ceroid lipofuscinosis  (DOID:14503)
  • 4 papers in RGD have been used to annotate TPP1
  • Curation Notes: ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
  • Original References(s): PMID:25741868


    • An association has been curated linking TPP1 and neuronal ceroid lipofuscinosis in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred by association of genotype and phenotype with RGD:8595859 (Homo sapiens)
  • 207 RGD objects have been annotated to neuronal ceroid lipofuscinosis  (DOID:14503)
  • 4 papers in RGD have been used to annotate TPP1
  • Curation Notes: ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
  • Original References(s): PMID:10330339 PMID:11339651 PMID:12376936 PMID:15520412 PMID:16199547 PMID:18684116 PMID:23418007 PMID:23539563 PMID:25741868 PMID:26224725 PMID:28335910 PMID:28492532 PMID:31283065 PMID:32329550 PMID:9295267 PMID:9788728


    • An association has been curated linking TPP1 and neuronal ceroid lipofuscinosis in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred by association of genotype and phenotype with RGD:13792054 (Homo sapiens)
  • 207 RGD objects have been annotated to neuronal ceroid lipofuscinosis  (DOID:14503)
  • 4 papers in RGD have been used to annotate TPP1
  • Curation Notes: ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
  • Original References(s): PMID:23266810 PMID:28492532 PMID:31059981 PMID:31283065 PMID:33377563


    • An association has been curated linking TPP1 and neuronal ceroid lipofuscinosis in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred by association of genotype and phenotype with RGD:12740178 (Homo sapiens)
  • 207 RGD objects have been annotated to neuronal ceroid lipofuscinosis  (DOID:14503)
  • 4 papers in RGD have been used to annotate TPP1
  • Curation Notes: ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
  • Original References(s): PMID:21990111 PMID:22245569 PMID:23374165 PMID:27553520 PMID:31059981 PMID:31589614 PMID:35314707


    • An association has been curated linking TPP1 and neuronal ceroid lipofuscinosis in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred by association of genotype and phenotype with RGD:26885963 (Homo sapiens)
  • 207 RGD objects have been annotated to neuronal ceroid lipofuscinosis  (DOID:14503)
  • 4 papers in RGD have been used to annotate TPP1
  • Curation Notes: ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
  • Original References(s): PMID:10330339 PMID:25741868 PMID:28492532 PMID:31283065


    • An association has been curated linking TPP1 and neuronal ceroid lipofuscinosis in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred by association of genotype and phenotype with RGD:12913981 (Homo sapiens)
  • 207 RGD objects have been annotated to neuronal ceroid lipofuscinosis  (DOID:14503)
  • 4 papers in RGD have been used to annotate TPP1
  • Curation Notes: ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
  • Original References(s): PMID:31069529


    • An association has been curated linking TPP1 and neuronal ceroid lipofuscinosis in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred by association of genotype and phenotype with RGD:10397078 (Homo sapiens)
  • 207 RGD objects have been annotated to neuronal ceroid lipofuscinosis  (DOID:14503)
  • 4 papers in RGD have been used to annotate TPP1
  • Curation Notes: ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
  • Original References(s): PMID:19038966 PMID:21990111 PMID:22832778 PMID:23266810 PMID:24091540 PMID:25741868 PMID:28492532 PMID:31489614 PMID:34849271


    • An association has been curated linking TPP1 and neuronal ceroid lipofuscinosis in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred by association of genotype and phenotype with RGD:8556926 (Homo sapiens)
  • 207 RGD objects have been annotated to neuronal ceroid lipofuscinosis  (DOID:14503)
  • 4 papers in RGD have been used to annotate TPP1
  • Curation Notes: ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
  • Original References(s): PMID:10330339 PMID:11017954 PMID:11071145 PMID:12376936 PMID:12414822 PMID:12488460 PMID:12796825 PMID:12950156 PMID:15317752 PMID:16782851 PMID:16814585 PMID:17679671 PMID:17959406 PMID:18283468 PMID:18473686 PMID:18684116 PMID:19201763 PMID:19793312 PMID:20301601 PMID:21990111 PMID:22245569 PMID:23266810 PMID:23418007 PMID:23539563 PMID:25525159 PMID:25741868 PMID:26026925 PMID:26075876 PMID:26467025 PMID:26795593 PMID:27407112 PMID:27553520 PMID:28464005 PMID:28492532 PMID:29631617 PMID:29687370 PMID:31122803 PMID:32412666 PMID:9295267 PMID:9788728


    • An association has been curated linking TPP1 and neuronal ceroid lipofuscinosis in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred by association of genotype and phenotype with RGD:126755759|RGD:26919556 (Homo sapiens) & RGD:126755759|RGD:26919556 (Homo sapiens)
  • 207 RGD objects have been annotated to neuronal ceroid lipofuscinosis  (DOID:14503)
  • 4 papers in RGD have been used to annotate TPP1
  • Curation Notes: ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
  • Original References(s): PMID:28492532


    • An association has been curated linking TPP1 and neuronal ceroid lipofuscinosis in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred by association of genotype and phenotype with RGD:13796057|RGD:21067549 (Homo sapiens) & RGD:13796057|RGD:21067549 (Homo sapiens)
  • 207 RGD objects have been annotated to neuronal ceroid lipofuscinosis  (DOID:14503)
  • 4 papers in RGD have been used to annotate TPP1
  • Curation Notes: ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis


    • An association has been curated linking TPP1 and neuronal ceroid lipofuscinosis in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred by association of genotype and phenotype with RGD:153305447 (Homo sapiens)
  • 207 RGD objects have been annotated to neuronal ceroid lipofuscinosis  (DOID:14503)
  • 4 papers in RGD have been used to annotate TPP1
  • Curation Notes: ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis
  • Original References(s): PMID:10330339 PMID:26143525 PMID:27146152 PMID:28492532


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