Varaico: Literature-Extracted Genetic Variants

Gene:SDHB
Variant:p.T17A
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SDHB

NM_003000.3:p.T17A

Associated Papers

Research progress on the pathogenesis of the SDHB mutation and related diseases.

Liu C et al.

Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie, 2023

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 › Missense_Variants

SDHx-related pheochromocytoma/paraganglioma - genetic, clinical, and treatment outcomes in a series of 30 patients from a single center.

Donato S et al.

Endocrine, 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

Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD.

Andrews KA et al.

Journal of Medical Genetics, 2018

Identification of three new variants of SDHx genes in a cohort of Portuguese patients with extra-adrenal paragangliomas.

Domingues R et al.

Journal of Endocrinological Investigation, 2012

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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."