Varaico: Literature-Extracted Genetic Variants

Gene:SDHB
Variant:p.G96Splc
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SDHB

NM_003000.3:p.G96Splc

Associated Papers

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

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

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

Optimizing Genetic Workup in Pheochromocytoma and Paraganglioma by Integrating Diagnostic and Research Approaches.

Gieldon L et al.

Cancers, 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

30050099 (PubMed )
Supplement: NIHMS1505462-supplement-Supplementary_information_3.xlsx › SDHx_variants

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

Jochmanova I et al.

Journal of Cancer Research and Clinical Oncology, 2017

[Familial paraganglioma syndrome: phenotype and relevance of a new SDHB mutation].

Díaz-Soto G et al.

Medicina Clinica, 2013

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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."