Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.S347P
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FH

NM_000143.4:p.S347P

Associated Papers

Segregation, immunohistochemical, molecular and functional analyses classify a novel missense variant in fumarate hydratase (FH) as pathogenic.

Ouchene L et al.

Genes, Chromosomes & Cancer, 2024

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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."