Varaico: Literature-Extracted Genetic Variants

Gene:SDHC
Variant:p.M1I
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SDHC

NM_003001.5:p.M1I

Associated Papers

Estimated global prevalence of genetic carriers of hereditary pheochromocytoma-paraganglioma syndrome in a large multiethnic genomic database.

Charoenngam N et al.

European Journal of Endocrinology, 2025

40974092 (PubMed )
Supplement: lvaf191_supplementary_data.docx

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

SDHB/SDHA immunohistochemistry in pheochromocytomas and paragangliomas: a multicenter interobserver variation analysis using virtual microscopy: a Multinational Study of the European Network for the Study of Adrenal Tumors (ENS@T).

Papathomas TG et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2015

Biallelic inactivation of the SDHC gene in renal carcinoma associated with paraganglioma syndrome type 3.

Malinoc A et al.

Endocrine-related Cancer, 2012

SDH mutations in tumorigenesis and inherited endocrine tumours: lesson from the phaeochromocytoma-paraganglioma syndromes.

Pasini B et al.

Journal of Internal Medicine, 2009

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

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

Schiavi F et al.

Jama, 2005

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

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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."