Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.K477*
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FH

NM_000143.4:p.K477*

Associated Papers

Cryptic splice mutation in the fumarate hydratase gene in patients with clinical manifestations of Hereditary Leiomyomatosis and Renal Cell Cancer.

Crooks DR et al.

Human Molecular Genetics, 2023

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."