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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking ATP6V1B2 and Zimmermann-Laband Syndrome 1 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:10056112 (Homo sapiens)
  • 2 RGD objects have been annotated to Zimmermann-Laband Syndrome 1  (DOID:9002680)
  • 6 papers in RGD have been used to annotate ATP6V1B2
  • Curation Notes: ClinVar Annotator: match by term: Zimmermann-Laband syndrome 1
  • Original References(s): PMID:18541964 PMID:23994350 PMID:25915598


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