Varaico: Literature-Extracted Genetic Variants

Gene:SDHAF2
Variant:p.D117H
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SDHAF2

NM_017841.4:p.D117H

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 FH mutations presenting with pheochromocytoma.

Clark GR et al.

The Journal of Clinical Endocrinology and Metabolism, 2014

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

Castro-Vega LJ et al.

Human Molecular Genetics, 2014

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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."