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VARIANT - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking CV48922 and Sebaceous Nevus Syndrome and Hemimegalencephaly 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 Sebaceous Nevus Syndrome and Hemimegalencephaly  (DOID:9002650)
  • 1 papers in RGD have been used to annotate CV48922
  • Curation Notes: ClinVar Annotator: match by term: Sebaceous nevus syndrome and hemimegalencephaly
  • Original References(s): PMID:12110640 PMID:14982869 PMID:17056636 PMID:17324647 PMID:18628094 PMID:20652921 PMID:20949621 PMID:24033266 PMID:24803665 PMID:25741868 PMID:28492532 PMID:29948256


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