Fumarate hydrataseFHc.1431_1433dupAAA (p.Lys477dup) variant is not associated with cancer including renal cell carcinoma
Abstract
Fumarate hydratase (FH) mutations underpin the autosomal recessive syndrome. FH deficiency and the autosomal dominant syndrome hereditary leiomyomatosis and renal cell carcinoma (HLRCC). The FH c.1431_1433dupAAA (p.Lys477dup) genomic alteration has been conclusively shown to contribute to FH deficiency when occurring with another FH germline alteration. However, a sufficiently large dataset has been lacking to conclusively determine its clinical...
Paper Details
Title
Fumarate hydrataseFHc.1431_1433dupAAA (p.Lys477dup) variant is not associated with cancer including renal cell carcinoma
Published Date
Sep 3, 2019
Journal
Volume
41
Issue
1
Pages
103 - 109
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