Varaico: Literature-Extracted Genetic Variants

Gene:ETFA
Variant:p.V168F
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ETFA

NM_000126.4:p.V168F

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

The Cardiomyocyte RNA-Binding Proteome: Links to Intermediary Metabolism and Heart Disease.

Liao Y et al.

Cell Reports, 2016

Role of postmortem genetic testing demonstrated in a case of glutaric aciduria type II.

Lee HC et al.

Diagnostic Molecular Pathology : the American Journal of Surgical Pathology, Part B, 2010

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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."