Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.K371*
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FH

NM_000143.4:p.K371*

Associated Papers

Association between fumarate hydratase variant subtypes and the risk of HLRCC-associated renal cell carcinoma: systematic review and meta-analysis.

Wang H et al.

Human Genomics, 2025

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

A retrospective review of 48 individuals, including 12 families, molecularly diagnosed with hereditary leiomyomatosis and renal cell cancer (HLRCC).

Bhola PT et al.

Familial Cancer, 2018

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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."