• Mutation; HGNC; HGNC:7881; NOTCH1; Simple; p.Leu1574Pro (c.4721T>C); Zygosity=Heterozygous (PubMed=15472075).
  
• Mutation; HGNC; HGNC:7881; NOTCH1; Simple; p.Pro2493fs*67 (c.7476_7477ins11); Zygosity=Heterozygous (PubMed=15472075).
  
• Mutation; HGNC; HGNC:11998; TP53; Simple; p.Arg273Cys (c.817C>T); ClinVar=VCV000043594; Zygosity=Heterozygous (Cosmic-CLP=909260).
  

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