Varaico: Literature-Extracted Genetic Variants

Gene:SDHD
Variant:p.M1T
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SDHD

NM_003002.4:p.M1T

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

Connecting the Dots: Mitochondrial Dysfunction, PCOS, and Insulin Resistance-Insights and Therapeutic Advances.

Tharayil SP et al.

International Journal of Molecular Sciences, 2025

SDHA Germline Mutations in SDH-Deficient GISTs: A Current Update.

Schipani A et al.

Genes, 2023

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

Risk assessment of maternally inherited SDHD paraganglioma and phaeochromocytoma.

Burnichon N et al.

Journal of Medical Genetics, 2017

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

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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."