• Mutation; HGNC; HGNC:3595; FAT1; Simple; p.Ile1829Val (c.5485A>G); Zygosity=Homozygous (PubMed=31541927).
  
• Mutation; HGNC; HGNC:7881; NOTCH1; Simple; p.Ala12Val (c.35C>T); ClinVar=VCV001494610; Zygosity=Homozygous (PubMed=31541927).
  

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