Varaico: Literature-Extracted Genetic Variants

Gene:ETFDH
Variant:p.V174I
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ETFDH

NM_004453.4:p.V174I

Associated Papers

Treatment of VLCAD-Deficient Patient Fibroblasts with Peroxisome Proliferator-Activated Receptor δ Agonist Improves Cellular Bioenergetics.

D'Annibale OM et al.

Cells, 2022

Genetic defects in fatty acid beta-oxidation and acyl-CoA dehydrogenases. Molecular pathogenesis and genotype-phenotype relationships.

Gregersen N et al.

European Journal of Biochemistry, 2004

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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."