Varaico: Literature-Extracted Genetic Variants

Gene:SDHB
Variant:p.S8S
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SDHB

NM_003000.3:p.S8S

Associated Papers

SDHx mutation and pituitary adenoma: can in vivo 1H-MR spectroscopy unravel the link?

Branzoli F et al.

Endocrine-related Cancer, 2023

Succinate dehydrogenase and MYC-associated factor X mutations in pituitary neuroendocrine tumours.

Loughrey PB et al.

Endocrine-related Cancer, 2022

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

Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.

von Stedingk K et al.

Scientific Reports, 2021

33674644 (PubMed )
Supplement: 41598_2021_84502_MOESM2_ESM.xlsx › S10_All_Variants

Genotype-phenotype associations in PPGLs in 59 patients with variants in SDHX genes.

Main AM et al.

Endocrine Connections, 2020

Limited Practical Utility of Liquid Biopsy in the Treated Patients with Advanced Breast Cancer.

Niwinska A et al.

Diagnostics (basel, Switzerland), 2020

32731384 (PubMed )
Supplement: diagnostics-10-00523-s001.zip › diagnostics-851816-supplementary.xlsx › Supplementary_Table_S2

Adrenocortical carcinoma and succinate dehydrogenase gene mutations: an observational case series.

Else T et al.

European Journal of Endocrinology, 2017

Identification of eight novel SDHB, SDHC, SDHD germline variants in Danish pheochromocytoma/paraganglioma patients.

Bennedbæk M et al.

Hereditary Cancer in Clinical Practice, 2016

Inactivation of SDH and FH cause loss of 5hmC and increased H3K9me3 in paraganglioma/pheochromocytoma and smooth muscle tumors.

Hoekstra AS et al.

Oncotarget, 2015

26472283 (PubMed )
Supplement: oncotarget-06-38777-s002.xlsx › Sheet1

Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.

Shankar GM et al.

Acta Neuropathologica Communications, 2014

25589003 (PubMed )
Supplement: 40478_2014_167_MOESM1_ESM.xlsx › Supplementary_Table_6

Prevalence of germline mutations in patients with pheochromocytoma or abdominal paraganglioma and sporadic presentation: a population-based study in Western Sweden.

Muth A et al.

World Journal of Surgery, 2012

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

A recurrent stop-codon mutation in succinate dehydrogenase subunit B gene in normal peripheral blood and childhood T-cell acute leukemia.

Baysal BE

Plos One, 2007

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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."