Varaico: Literature-Extracted Genetic Variants

Gene:SDHD
Variant:p.R17*
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SDHD

NM_003002.4:p.R17*

Associated Papers

Pan-Cancer Exome-wide analysis of germline mutational patterns and pathways.

Alnaqbi H et al.

Scientific Reports, 2025

40594066 (PubMed )
Supplement: 41598_2025_5296_MOESM2_ESM.xlsx › Supplementary_Table_1

Succinate dehydrogenase variants in paraganglioma: why are B subunit variants 'bad'?

Gruber LM et al.

Endocrine Oncology (bristol, England), 2023

37434649 (PubMed )
Supplement: supplementary_table_1.xlsx › Truncating_Variants

Optimizing Genetic Workup in Pheochromocytoma and Paraganglioma by Integrating Diagnostic and Research Approaches.

Gieldon L et al.

Cancers, 2019

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

Denaturing high performance liquid chromatography detection of SDHB, SDHD, and VHL germline mutations in pheochromocytoma.

Meyer-Rochow GY et al.

The Journal of Surgical Research, 2009

Malignant paraganglioma caused by a novel germline mutation of the succinate dehydrogenase D-gene--a case report.

Papaspyrou K et al.

Head & Neck, 2008

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