• Gene deletion; HGNC; HGNC:1787; CDKN2A; Zygosity=Homozygous (PubMed=34059954).
  
• Gene deletion; HGNC; HGNC:1788; CDKN2B; Zygosity=Homozygous (PubMed=34059954).
  
• Gene deletion; HGNC; HGNC:7765; NF1; Zygosity=Heterozygous; Note=Germline (PubMed=10534774).
  
• Mutation; HGNC; HGNC:7765; NF1; Simple; p.Asp1302Tyrfs*5 (c.3904_3910del); Zygosity=Heterozygous; Note=Somatic (PubMed=36818284).
  
• Mutation; HGNC; HGNC:11998; TP53; Simple; c.96+1G>A (IVS3+1G>A); ClinVar=VCV000860797; Zygosity=Unspecified; Note=Splice donor mutation (PubMed=7522538).
  

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