Varaico: Literature-Extracted Genetic Variants

Gene:SDHB
Variant:p.M1I
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SDHB

NM_003000.3:p.M1I

Associated Papers

SDHA-related phaeochromocytoma and paraganglioma: review and clinical management.

Kaplan AI et al.

Endocrine-related Cancer, 2024

39133175 (PubMed )
Supplement: supplementary_table_1-2.pdf

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

SDH-deficient renal cell carcinoma: A case report associated with a novel germline mutation.

Milionis V et al.

Clinical Case Reports, 2021

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

Martins RG et al.

Clinical Endocrinology, 2020

Increased Mortality in SDHB but Not in SDHD Pathogenic Variant Carriers.

Rijken JA et al.

Cancers, 2019

Non-pheochromocytoma (PCC)/paraganglioma (PGL) tumors in patients with succinate dehydrogenase-related PCC-PGL syndromes: a clinicopathological and molecular analysis.

Papathomas TG et al.

European Journal of Endocrinology, 2014

Head and neck paragangliomas: genetic spectrum and clinical variability in 79 consecutive patients.

Piccini V et al.

Endocrine-related Cancer, 2012

SDHB-associated renal oncocytoma suggests a broadening of the renal phenotype in hereditary paragangliomatosis.

Henderson A et al.

Familial Cancer, 2009

The occurrence of SDHB gene mutations in pheochromocytoma.

Van Nederveen FH et al.

Annals of the New York Academy of Sciences, 2006

Predictors and prevalence of paraganglioma syndrome associated with mutations of the SDHC gene.

Schiavi F et al.

Jama, 2005

Mutations of the SDHB and SDHD genes.

Pawlu C et al.

Familial Cancer, 2005

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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."