Varaico: Literature-Extracted Genetic Variants

Gene:ETFDH
Variant:p.P389L
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ETFDH

NM_004453.4:p.P389L

Associated Papers

PET/CT and exome sequencing in late onset multiple acyl-CoA dehydrogenase deficiency: a case series and literature review.

Lin DF et al.

Bmc Medical Genomics, 2025

Riboflavin Deficiency-Implications for General Human Health and Inborn Errors of Metabolism.

Mosegaard S et al.

International Journal of Molecular Sciences, 2020

Secondary coenzyme Q10 deficiency and oxidative stress in cultured fibroblasts from patients with riboflavin responsive multiple Acyl-CoA dehydrogenation deficiency.

Cornelius N et al.

Human Molecular Genetics, 2013

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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."