Varaico: Literature-Extracted Genetic Variants

Gene:SARDH
Variant:p.Q115*
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SARDH

NM_001134707.2:p.Q115*

Associated Papers

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

Increased Mortality in SDHB but Not in SDHD Pathogenic Variant Carriers.

Rijken JA et al.

Cancers, 2019

Germline SDHB and SDHD mutations in pheochromocytoma and paraganglioma patients.

Huang Y et al.

Endocrine Connections, 2018

[Germline gene testing of the RET, VHL, SDHD and SDHB genes in patients with pheochromocytoma/paraganglioma].

Wu K et al.

Beijing Da Xue Xue Bao. Yi Xue Ban = Journal of Peking University. Health Sciences, 2018

High prevalence of founder mutations of the succinate dehydrogenase genes in the Netherlands.

Hensen EF et al.

Clinical Genetics, 2012

Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD.

Ricketts CJ et al.

Human Mutation, 2010

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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."