Varaico: Literature-Extracted Genetic Variants

Gene:ETFDH
Variant:p.D120H
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ETFDH

NM_004453.4:p.D120H

Associated Papers

Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD): Clinical Features, Diagnostic Challenges, and the Role of Oxidative Stress in Pathophysiology.

Zoppi D et al.

Antioxidants (basel, Switzerland), 2025

Exome analysis focusing on epilepsy-related genes in children and adults with sudden unexplained death.

Buerki SE et al.

Seizure, 2023

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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."