Varaico: Literature-Extracted Genetic Variants

Gene:SDHD
Variant:p.S57Splc
Back to variants list

SDHD

NM_003002.4:p.S57Splc

Associated Papers

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

Cardot-Bauters C et al.

Annales D'endocrinologie, 2024

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

Characteristics of germline mutations in Korean patients with pheochromocytoma/paraganglioma.

Kim JH et al.

Journal of Medical Genetics, 2022

[Identification of SDHD c.170-1G>T variant in pedigree affected with carotid body tumor].

Liu H et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2020

Targeted next-generation sequencing detects rare genetic events in pheochromocytoma and paraganglioma.

Ben Aim L et al.

Journal of Medical Genetics, 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

Multifocal Paraganglioma and Pheochromocytoma Due to Truncated SDHD Mutation.

Zuo Y et al.

Urology, 2018

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

Santi R et al.

Anticancer Research, 2017

Mitochondrial function and content in pheochromocytoma/paraganglioma of succinate dehydrogenase mutation carriers.

Rapizzi E et al.

Endocrine-related Cancer, 2012

The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas.

Burnichon N et al.

The Journal of Clinical Endocrinology and Metabolism, 2009

High prevalence of SDHB mutations in head and neck paraganglioma in Belgium.

Persu A et al.

Journal of Hypertension, 2008

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

Mannelli M et al.

Annals of the New York Academy of Sciences, 2006

Hereditary phaeochromocytomas and paragangliomas: a study of five susceptibility genes.

Bauters C et al.

Journal of Medical Genetics, 2003

A novel mutation in the SDHD gene in a family with inherited paragangliomas--implications of genetic diagnosis for follow up and treatment.

Renard L et al.

Head & Neck, 2003

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."