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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking MECP2 and Downslanted palpebral fissures 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:8562753 (Homo sapiens)
  • 487 RGD objects have been annotated to Downslanted palpebral fissures  (HP:0000494)
  • 23 papers in RGD have been used to annotate MECP2
  • Curation Notes: ClinVar Annotator: match by term: Downslanted palpebral fissures
  • Original References(s): PMID:11007980 PMID:11071498 PMID:11309367 PMID:11772708 PMID:11805248 PMID:11885030 PMID:12325019 PMID:12843318 PMID:14598336 PMID:20301670 PMID:21831886 PMID:24328834 PMID:25473036 PMID:25741868 PMID:26350204 PMID:26418480 PMID:27465203 PMID:27781091 PMID:27929079 PMID:28492532 PMID:32581362


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