Varaico: Literature-Extracted Genetic Variants

Gene:SDHD
Variant:p.S57Splc
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SDHD

NM_003002.4:p.S57Splc

Associated Papers

Metabolome-guided genomics to identify pathogenic variants in isocitrate dehydrogenase, fumarate hydratase, and succinate dehydrogenase genes in pheochromocytoma and paraganglioma.

Richter S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

30050099 (PubMed )
Supplement: NIHMS1505462-supplement-Supplementary_information_3.xlsx › SDHx_variants
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