Varaico: Literature-Extracted Genetic Variants

Gene:SDHC
Variant:p.L139P
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SDHC

NM_003001.5:p.L139P

Associated Papers

Can subunit-specific phenotypes guide surveillance imaging decisions in asymptomatic SDH mutation carriers?

Tufton N et al.

Clinical Endocrinology, 2019

An overview on molecular biology of KIT/PDGFRA wild type (WT) gastrointestinal stromal tumours (GIST).

Nannini M et al.

Journal of Medical Genetics, 2013

High prevalence of occult paragangliomas in asymptomatic carriers of SDHD and SDHB gene mutations.

Heesterman BL et al.

European Journal of Human Genetics : Ejhg, 2013

Phaeochromocytomas and sympathetic paragangliomas.

Petri BJ et al.

The British Journal of Surgery, 2009

Impact of screening kindreds for SDHD p.Cys11X as a common mutation associated with paraganglioma syndrome type 1.

Peczkowska M et al.

The Journal of Clinical Endocrinology and Metabolism, 2008

Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma.

Bayley JP et al.

Bmc Medical Genetics, 2006

Mutation analysis of the SDHD gene in four kindreds with familial paraganglioma: description of one novel germline mutation.

Velasco A et al.

Diagnostic Molecular Pathology : the American Journal of Surgical Pathology, Part B, 2005

p53 alterations and their relationship to SDHD mutations in parasympathetic paragangliomas.

van Nederveen FH et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2003

Hereditary paraganglioma targets diverse paraganglia.

Baysal BE

Journal of Medical Genetics, 2002

Phenotypic dichotomy in mitochondrial complex II genetic disorders.

Baysal BE et al.

Journal of Molecular Medicine (berlin, Germany), 2001

Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene.

Taschner PE et al.

Genes, Chromosomes & Cancer, 2001

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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."