Varaico: Literature-Extracted Genetic Variants

Gene:SDHA
Variant:p.K636_V637Splc
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SDHA

NM_004168.4:p.K636_V637Splc

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

Preferential MGMT hypermethylation in SDH-deficient wild-type GIST.

Giger OT et al.

Journal of Clinical Pathology, 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

SDHC epi-mutation testing in gastrointestinal stromal tumours and related tumours in clinical practice.

Casey RT et al.

Scientific Reports, 2019

SDHA related tumorigenesis: a new case series and literature review for variant interpretation and pathogenicity.

Casey RT et al.

Molecular Genetics & Genomic Medicine, 2017

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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."