Varaico: Literature-Extracted Genetic Variants

Gene:ETFA
Variant:p.V165A
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ETFA

NM_000126.4:p.V165A

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

Singleton rapid long-read genome sequencing as first tier genetic test for critically Ill children with suspected genetic diseases.

Kamolvisit W et al.

European Journal of Human Genetics : Ejhg, 2025

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

Liao Y et al.

Cell Reports, 2016

Electron transfer flavoprotein deficiency: functional and molecular aspects.

Schiff M et al.

Molecular Genetics and Metabolism, 2006

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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."