Varaico: Literature-Extracted Genetic Variants

Gene:SDHB
Variant:p.C243S
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SDHB

NM_003000.3:p.C243S

Associated Papers

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

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

Rijken JA et al.

Cancers, 2019

The penetrance of paraganglioma and pheochromocytoma in SDHB germline mutation carriers.

Rijken JA et al.

Clinical Genetics, 2018

The phenotype of SDHB germline mutation carriers: a nationwide study.

Niemeijer ND et al.

European Journal of Endocrinology, 2017

SDHB-Deficient Cancers: The Role of Mutations That Impair Iron Sulfur Cluster Delivery.

Saxena N et al.

Journal of the National Cancer Institute, 2016

Structural basis for malfunction in complex II.

Iverson TM et al.

The Journal of Biological Chemistry, 2012

Candidate gene mutation analysis in bilateral adrenal pheochromocytoma and sympathetic paraganglioma.

Korpershoek E et al.

Endocrine-related Cancer, 2007

Genetic analyses of apparently sporadic pheochromocytomas: the Rotterdam experience.

Korpershoek E et al.

Annals of the New York Academy of Sciences, 2006

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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."