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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking NPC2 and Microcephaly 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:9850305 (Homo sapiens)
  • 1424 RGD objects have been annotated to Microcephaly  (HP:0000252)
  • 5 papers in RGD have been used to annotate NPC2
  • Curation Notes: ClinVar Annotator: match by term: Microcephaly
  • Original References(s): PMID:12955717 PMID:15937921 PMID:25558065 PMID:25741868 PMID:25764212 PMID:28492532


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