• 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 (PubMed=36818284).
  
• Mutation; HGNC; HGNC:7765; NF1; Simple; p.Asn1229Metfs*11 (c.3683delC); Zygosity=Heterozygous; Note=Germline (PubMed=17876295).
  

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