Varaico: Literature-Extracted Genetic Variants

Gene:SDHA
Variant:p.D596H
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SDHA

NM_004168.4:p.D596H

Associated Papers

High Succinate peak in Magnetic Resonance Spectroscopy: A Diagnostic Clue for the Leukoencephalopathy Result from Succinate Dehydrogenase Deficiencies.

Koc Ucar H et al.

Iranian Journal of Child Neurology, 2025

Prevalence of germline variants in Brazilian pancreatic carcinoma patients.

Rodrigues LM et al.

Scientific Reports, 2024

39256447 (PubMed )
Supplement: 41598_2024_71884_MOESM1_ESM.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

Genetic Etiology for Alcohol-Induced Cardiac Toxicity.

Ware JS et al.

Journal of the American College of Cardiology, 2018

29773157 (PubMed )
Supplement: mmc2.xlsx › Final_VariantList_Rare_ACMonly
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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."