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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking CHCHD2 and PSPH deficiency 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:151828508|RGD:151831474 (Homo sapiens) & RGD:151828508|RGD:151831474 (Homo sapiens)
  • 6 RGD objects have been annotated to PSPH deficiency  (DOID:0050724)
  • 3 papers in RGD have been used to annotate CHCHD2
  • Curation Notes: ClinVar Annotator: match by term: Phosphoserine phosphatase deficiency
  • Original References(s): PMID:28492532


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