Varaico: Literature-Extracted Genetic Variants

Gene:SDHB
Variant:p.R116K
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SDHB

NM_003000.3:p.R116K

Associated Papers

New Insights into the Clinical Characterization of SDHAF2-related Familial Paraganglioma Syndrome.

Fernandez-Pombo A et al.

The Journal of Clinical Endocrinology and Metabolism, 2025

Estimated global prevalence of genetic carriers of hereditary pheochromocytoma-paraganglioma syndrome in a large multiethnic genomic database.

Charoenngam N et al.

European Journal of Endocrinology, 2025

40974092 (PubMed )
Supplement: lvaf191_supplementary_data.docx
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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."