Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.G348A
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FH

NM_000143.4:p.G348A

Associated Papers

Hereditary leiomyomatosis and renal cell cancer (HLRCC), pheochromocytoma (PCC)/paraganglioma (PGL) and germline fumarate hydratase (FH) variants.

Orrego JJ et al.

Endocrinology, Diabetes & Metabolism Case Reports, 2024

Germline mutations in FH confer predisposition to malignant pheochromocytomas and paragangliomas.

Castro-Vega LJ et al.

Human Molecular Genetics, 2014

Paragangliomas: update on differential diagnostic considerations, composite tumors, and recent genetic developments.

Papathomas TG et al.

Seminars in Diagnostic Pathology, 2013

SDH mutations establish a hypermethylator phenotype in paraganglioma.

Letouzé E et al.

Cancer Cell, 2013

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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."