Varaico: Literature-Extracted Genetic Variants

Gene:ETFA
Variant:p.G255V
Back to variants list

ETFA

NM_000126.4:p.G255V

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

Carnitine Deficiency Caused by Salcaprozic Acid Sodium Contained in Oral Semaglutide in a Patient with Multiple Acyl-CoA Dehydrogenase Deficiency.

Mikami-Saito Y et al.

International Journal of Molecular Sciences, 2025

Stealthy progression of type 2 diabetes mellitus due to impaired ketone production in an adult patient with multiple acyl-CoA dehydrogenase deficiency.

Ikeda N et al.

Molecular Genetics and Metabolism Reports, 2024

Clinical and molecular investigations of Japanese cases of glutaric acidemia type 2.

Yotsumoto Y et al.

Molecular Genetics and Metabolism, 2008

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."