• Gene deletion; HGNC; HGNC:1787; CDKN2A; Zygosity=Heterozygous (PubMed=21642991).
  
• Mutation; HGNC; HGNC:950; BAP1; Simple; p.Glu54Ter (c.160G>T); Zygosity=Heterozygous (PubMed=21642991).
  

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