Varaico: Literature-Extracted Genetic Variants

Gene:SDHB
Variant:p.G96Splc
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SDHB

NM_003000.3:p.G96Splc

Associated Papers

3P association and the evolving significance of succinate dehydrogenase (SDHB) mutation in pituitary adenomas.

Agrawal SS et al.

Hormones (athens, Greece), 2025

Novel Gene Variants in a Nationwide Cohort of Patients with Pheochromocytoma and Paraganglioma.

Martínez de Lapiscina I et al.

International Journal of Molecular Sciences, 2024

Prevalence of the cancer-associated germline variants in Russian adults and long-living individuals: using the ACMG recommendations and computational interpreters for pathogenicity assessment.

Gusakova M et al.

Frontiers in Oncology, 2024

39301547 (PubMed )
Supplement: DataSheet1.zip › Supplementary_Table_3.XLSX › all_group_1

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

Liu C et al.

Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie, 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

Gastrointestinal stromal tumors caused by novel germline variants in SDHB and KIT: a report of two cases and literature review.

Rasmussen S et al.

Clinical Journal of Gastroenterology, 2022

Analytical Performance of NGS-Based Molecular Genetic Tests Used in the Diagnostic Workflow of Pheochromocytoma/Paraganglioma.

Sarkadi B et al.

Cancers, 2021

Mutation Frequency in Main Susceptibility Genes Among Patients With Head and Neck Paragangliomas.

Snezhkina AV et al.

Frontiers in Genetics, 2020

33391357 (PubMed )
Supplement: Data_Sheet_1.PDF

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

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

Jochmanova I et al.

Journal of Cancer Research and Clinical Oncology, 2017

Novel SDHB and TMEM127 Mutations in Patients with Pheochromocytoma/Paraganglioma Syndrome.

Patócs A et al.

Pathology Oncology Research : Por, 2016

Germline mutations and genotype-phenotype correlation in Asian Indian patients with pheochromocytoma and paraganglioma.

Pandit R et al.

European Journal of Endocrinology, 2016

Association of urinary bladder paragangliomas with germline mutations in the SDHB and VHL genes.

Martucci VL et al.

Urologic Oncology, 2015

Novel mutation (L157X) in the succinate dehydrogenase B gene (SDHB) in a Japanese family with abdominal paraganglioma following lung metastasis.

Saito T et al.

Endocrine Journal, 2009

R46Q mutation in the succinate dehydrogenase B gene (SDHB) in a Japanese family with both abdominal and thoracic paraganglioma following metastasis.

Takekoshi K et al.

Endocrine Journal, 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

High frequency of SDHB germline mutations in patients with malignant catecholamine-producing paragangliomas: implications for genetic testing.

Brouwers FM et al.

The Journal of Clinical Endocrinology and Metabolism, 2006

SDH mutations in patients affected by paraganglioma syndromes: a personal experience.

Mannelli M et al.

Annals of the New York Academy of Sciences, 2006

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