Varaico: Literature-Extracted Genetic Variants

Gene:ETFA
Variant:p.V322L
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ETFA

NM_000126.4:p.V322L

Associated Papers

Hepatic Presentation of Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD): Case Report and Systematic Review.

Siano MA et al.

Frontiers in Pediatrics, 2021

Mitochondrial energetic impairment in a patient with late-onset glutaric acidemia Type 2.

Xiao C et al.

American Journal of Medical Genetics. Part A, 2020

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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."