Varaico: Literature-Extracted Genetic Variants

Gene:ETFA
Variant:p.Q285L
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ETFA

NM_000126.4:p.Q285L

Associated Papers

First report of neonatal-onset glutaric aciduria type II in the Iranian population caused by a novel deleterious ETFA variant.

Parvini F et al.

Orphanet Journal of Rare Diseases, 2025

Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency.

van Rijt WJ et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

Glutaric acidemia type II patient with thalassemia minor and novel electron transfer flavoprotein-A gene mutations: A case report and review of literature.

Saral NY et al.

World Journal of Clinical Cases, 2018

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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."