Varaico: Literature-Extracted Genetic Variants

Gene:SDHB
Variant:p.L171L
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SDHB

NM_003000.3:p.L171L

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 › Missense_Variants

SDHA Germline Variants in Adult Patients With SDHA-Mutant Gastrointestinal Stromal Tumor.

Pantaleo MA et al.

Frontiers in Oncology, 2021

Genetic Analysis and Clinical Characteristics of Hereditary Pheochromocytoma and Paraganglioma Syndrome in Korean Population.

Choi H et al.

Endocrinology and Metabolism (seoul, Korea), 2020

SDHA related tumorigenesis: a new case series and literature review for variant interpretation and pathogenicity.

Casey RT et al.

Molecular Genetics & Genomic Medicine, 2017

28546994 (PubMed )
Supplement: MGG3-5-237-s001.docx

Succinate dehydrogenase deficient gastrointestinal stromal tumors (GISTs) - a review.

Miettinen M et al.

The International Journal of Biochemistry & Cell Biology, 2014

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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."