• Mutation; HGNC; HGNC:21157; GTF2H5; Simple; p.Leu21Pro (c.62T>C); ClinVar=VCV000002104; Zygosity=Heterozygous (from parent cell line).
  
• Mutation; HGNC; HGNC:21157; GTF2H5; Simple; p.Arg56Ter (c.166C>T); ClinVar=VCV000002103; Zygosity=Heterozygous (from parent cell line).
  

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