Varaico: Literature-Extracted Genetic Variants

Gene:SDHA
Variant:p.K517E
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SDHA

NM_004168.4:p.K517E

Associated Papers

Epilepsy Phenotype and EEG Finding of Rhythmic High-Amplitude Delta With Superimposed Spikes (RHADS) in Succinate Dehydrogenase Deficiency.

Bowen AB et al.

Jimd Reports, 2026

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

Differences between genetic dilated cardiomyopathy and myocarditis in children presenting with severe cardiac dysfunction.

Gran F et al.

European Journal of Pediatrics, 2022

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