• Gene deletion; HGNC; 8598; PANK1; Zygosity=Homozygous (PubMed=36139163).
  
• Mutation; HGNC; 11998; TP53; Simple; p.Arg273Cys (c.817C>T); ClinVar=VCV000043594; Zygosity=Unspecified (PubMed=8253536).
  

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