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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking CACNA1A and combined T cell and B cell immunodeficiency 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:12834778 (Homo sapiens)
  • 385 RGD objects have been annotated to combined T cell and B cell immunodeficiency  (DOID:628)
  • 18 papers in RGD have been used to annotate CACNA1A
  • Curation Notes: ClinVar Annotator: match by term: Combined T and B cell immunodeficiency
  • Original References(s): PMID:25741868 PMID:26467025 PMID:28492532


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