Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.A316V
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FH

NM_000143.4:p.A316V

Associated Papers

Integrated morphological, immunohistochemical, and genomic profiling identifies uterine leiomyoma patients with hereditary leiomyomatosis and renal cell cancer syndrome: a comprehensive analysis of 252 cases.

Liu Y et al.

The Journal of Pathology, 2026

Circulating succinate-modifying metabolites accurately classify and reflect the status of fumarate hydratase-deficient renal cell carcinoma.

Zheng L et al.

The Journal of Clinical Investigation, 2023

37053010 (PubMed )
Supplement: jci-133-165028-s194.xlsx › FH-deficient_RCC_group

Novel morphological and genetic features of fumarate hydratase deficient renal cell carcinoma in HLRCC syndrome patients with a tailored therapeutic approach.

Wyvekens N et al.

Genes, Chromosomes & Cancer, 2020

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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."