Varaico: Literature-Extracted Genetic Variants

Gene:SDHB
Variant:p.G96Splc
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SDHB

NM_003000.3:p.G96Splc

Associated Papers

Genetic predisposition to pheochromocytoma and paraganglioma: 21 years of experience in the field.

Cardot-Bauters C et al.

Annales D'endocrinologie, 2024

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

Liu C et al.

Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie, 2023

Distortion in transmission of pathogenic SDHB- and SDHD-mutated alleles from parent to offspring.

Davidoff DF et al.

Endocrine-related Cancer, 2023

Targeted metabolomics detects a putatively diagnostic signature in plasma and dried blood spots from head and neck paraganglioma patients.

De Fabritiis S et al.

Oncogenesis, 2023

36841802 (PubMed )
Supplement: 41389_2023_456_MOESM1_ESM.pdf

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

Discrepancies between tumor genomic profiling and germline genetic testing.

Pauley K et al.

Esmo Open, 2022

Clinically Advanced Pheochromocytomas and Paragangliomas: A Comprehensive Genomic Profiling Study.

Bratslavsky G et al.

Cancers, 2021

34282751 (PubMed )
Supplement: cancers-13-03312-s001.zip › cancers-1207950-supplementary.xlsx › Sheet1

An analysis of surveillance screening for SDHB-related disease in childhood and adolescence.

Tufton N et al.

Endocrine Connections, 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

Continued Tumor Reduction of Metastatic Pheochromocytoma/Paraganglioma Harboring Succinate Dehydrogenase Subunit B Mutations with Cyclical Chemotherapy.

Jawed I et al.

Cellular and Molecular Neurobiology, 2018

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

SDHB-related pheochromocytoma and paraganglioma penetrance and genotype-phenotype correlations.

Jochmanova I et al.

Journal of Cancer Research and Clinical Oncology, 2017

Potential Pitfalls of SDH Immunohistochemical Detection in Paragangliomas and Phaeochromocytomas Harbouring Germline SDHx Gene Mutation.

Santi R et al.

Anticancer Research, 2017

Urinary Bladder Paragangliomas: Analysis of Succinate Dehydrogenase and Outcome.

Gupta S et al.

Endocrine Pathology, 2016

Cardiac Paraganglioma Arising From the Right Atrioventricular Groove in a Paraganglioma-Pheochromocytoma Family Syndrome With Evidence of SDHB Gene Mutation: An Unusual Presentation.

Del Forno B et al.

The Annals of Thoracic Surgery, 2016

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

Evaluation of SDHB, SDHD and VHL gene susceptibility testing in the assessment of individuals with non-syndromic phaeochromocytoma, paraganglioma and head and neck paraganglioma.

Jafri M et al.

Clinical Endocrinology, 2013

Successful chemotherapy of hepatic metastases in a case of succinate dehydrogenase subunit B-related paraganglioma.

He J et al.

Endocrine, 2009

Biochemically silent abdominal paragangliomas in patients with mutations in the succinate dehydrogenase subunit B gene.

Timmers HJ et al.

The Journal of Clinical Endocrinology and Metabolism, 2008

Clinical presentations, biochemical phenotypes, and genotype-phenotype correlations in patients with succinate dehydrogenase subunit B-associated pheochromocytomas and paragangliomas.

Timmers HJ et al.

The Journal of Clinical Endocrinology and Metabolism, 2007

Paragangliomas: clinical overview.

Young WF

Annals of the New York Academy of Sciences, 2006

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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."