Varaico: Literature-Extracted Genetic Variants

Gene:SDHB
Variant:p.G69D
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SDHB

NM_003000.3:p.G69D

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

Evidence for a Founder Effect of SDHB Exon 1 Deletion in Brazilian Patients With Paraganglioma.

Fagundes GFC et al.

The Journal of Clinical Endocrinology and Metabolism, 2023

Biochemically silent abdominal paragangliomas in patients with mutations in the succinate dehydrogenase subunit B gene.

Timmers HJ et al.

The Journal of Clinical Endocrinology and Metabolism, 2008

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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."