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VARIANT - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking CV77694 and mandibuloacral dysplasia type A lipodystrophy 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
  • 4 RGD objects have been annotated to mandibuloacral dysplasia type A lipodystrophy  (DOID:0081128)
  • 0 papers in RGD have been used to annotate CV77694
  • Curation Notes: ClinVar Annotator: match by term: Lipodystrophy, type A, associated with mandibuloacral dysplasia
  • Original References(s): PMID:19427440 PMID:23977161 PMID:24623722 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30402260


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