• Mutation; HGNC; HGNC:3584; FANCC; Simple; c.456+4A>T (IVS4+4A>T); ClinVar=VCV000012045; Zygosity=Homozygous; Note=Splice donor mutation (Coriell=GM00449).
  

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CLPUB00447
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Liu J.M., Buchwald M., Walsh C.E., Young N.S.
Fanconi anemia and novel strategies for therapy.
Blood 84:3995-4007(1994)

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