• Gene deletion; HGNC; HGNC:6770; SMAD4; Zygosity=Homozygous (ATCC=CRL-5822).
  
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• Mutation; HGNC; HGNC:11998; TP53; Simple; p.Arg248Gln (c.743G>A); ClinVar=VCV000012356; Zygosity=Homozygous (PubMed=1676761; ATCC=CRL-5822).
  

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