Fumarate hydratase c.914T > C (p.Phe305Ser) is a pathogenic variant associated with hereditary leiomyomatosis and renal cell cancer syndrome
ConclusionThis combination of evidence suggests that theFH c.914C > T (p.Phe305Ser) is pathogenic for HLRCC.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Kelsey E. Breen,
Maria I. Carlo,
Yelena Kemel,
Anna Maio,
Ying ‐Bei Chen,
Liying Zhang,
Ozge Ceyhan‐Birsoy,
Diana Mandelker Tags: CLINICAL REPORT Source Type: research
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