Varaico: Literature-Extracted Genetic Variants

Gene:ETFDH
Variant:p.Y257H
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ETFDH

NM_004453.4:p.Y257H

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

Multiple acyl-CoA dehydrogenase deficiency (MADD) as a cause of late-onset treatable metabolic disease.

Béhin A et al.

Revue Neurologique, 2016

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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."