Varaico: Literature-Extracted Genetic Variants

Gene:SDHB
Variant:p.C98Y
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SDHB

NM_003000.3:p.C98Y

Associated Papers

Functional Characterization of SDHB Variants Clarifies Hereditary Pheochromocytoma and Paraganglioma Risk and Genotype-Phenotype Relationships.

Lee S et al.

The Journal of Clinical Investigation, 2025

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

Cardot-Bauters C et al.

Annales D'endocrinologie, 2024

Evidence for a Founder Effect of SDHB Exon 1 Deletion in Brazilian Patients With Paraganglioma.

Fagundes GFC et al.

The Journal of Clinical Endocrinology and Metabolism, 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

Germline genetic variants in pheochromocytoma/paraganglioma: single-center experience.

Lima JV et al.

Endocrine Oncology (bristol, England), 2023

International initiative for a curated SDHB variant database improving the diagnosis of hereditary paraganglioma and pheochromocytoma.

Ben Aim L et al.

Journal of Medical Genetics, 2022

34452955 (PubMed )
Supplement: jmedgenet-2020-107652supp002.xlsx › SDHB_variants

Increased expression of Nrf2 and elevated glucose uptake in pheochromocytoma and paraganglioma with SDHB gene mutation.

Kamai T et al.

Bmc Cancer, 2022

Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD.

Garrett A et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022

34906457 (PubMed )
Supplement: mmc1.xlsx › SupTable2_Variant_Counts

Genetic and clinical aspects of paediatric pheochromocytomas and paragangliomas.

Petenuci J et al.

Clinical Endocrinology, 2021

Surveillance of succinate dehydrogenase gene mutation carriers: Insights from a nationwide cohort.

Martins RG et al.

Clinical Endocrinology, 2020

Clinical characteristics and outcomes of SDHB-related pheochromocytoma and paraganglioma in children and adolescents.

Jochmanova I et al.

Journal of Cancer Research and Clinical Oncology, 2020

Clinical significance and peculiarities of succinate dehydrogenase B and hypoxia inducible factor 1α expression in parasympathetic versus sympathetic paragangliomas.

Bernardo-Castiñeira C et al.

Head & Neck, 2019

Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD.

Ricketts CJ et al.

Human Mutation, 2010

Denaturing high performance liquid chromatography detection of SDHB, SDHD, and VHL germline mutations in pheochromocytoma.

Meyer-Rochow GY et al.

The Journal of Surgical Research, 2009

Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes.

Benn DE et al.

The Journal of Clinical Endocrinology and Metabolism, 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."