Varaico: Literature-Extracted Genetic Variants

Gene:SDHB
Variant:p.M1V
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SDHB

NM_003000.3:p.M1V

Associated Papers

Estimated global prevalence of genetic carriers of hereditary pheochromocytoma-paraganglioma syndrome in a large multiethnic genomic database.

Charoenngam N et al.

European Journal of Endocrinology, 2025

40974092 (PubMed )
Supplement: lvaf191_supplementary_data.docx

KLHL24 associated cardiomyopathy: Gene function to clinical management.

Johnson N et al.

Gene, 2025

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

High incidence of occult familial SDHD cases amongst Czech patients with head and neck paragangliomas.

Guha A et al.

Frontiers in Endocrinology, 2023

Genetic and Clinical Profiles of Pheochromocytoma and Paraganglioma: A Single Center Study.

Ma X et al.

Frontiers in Endocrinology, 2020

Tumor multifocality with vagus nerve involvement as a phenotypic marker of SDHD mutation in patients with head and neck paragangliomas: A 18 F-FDOPA PET/CT study.

Amodru V et al.

Head & Neck, 2019

Germline SDHA mutations in children and adults with cancer.

Dubard Gault M et al.

Cold Spring Harbor Molecular Case Studies, 2018

Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes.

Whitworth J et al.

American Journal of Human Genetics, 2018

The penetrance of paraganglioma and pheochromocytoma in SDHB germline mutation carriers.

Rijken JA et al.

Clinical Genetics, 2018

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

Pyruvate carboxylation enables growth of SDH-deficient cells by supporting aspartate biosynthesis.

Cardaci S et al.

Nature Cell Biology, 2015

26302408 (PubMed )
Supplement: NIHMS64521-supplement-SuppTable2.xlsx › Sheet1

Phenotype of SDHB mutation carriers in the Netherlands.

van Hulsteijn LT et al.

Familial Cancer, 2014

Predictors and prevalence of paraganglioma syndrome associated with mutations of the SDHC gene.

Schiavi F et al.

Jama, 2005

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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."