Varaico: Literature-Extracted Genetic Variants

Gene:ETFDH
Variant:p.H249Y
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ETFDH

NM_004453.4:p.H249Y

Associated Papers

Clinical and molecular investigation of 37 Japanese patients with multiple acyl-CoA dehydrogenase deficiency: p.Y507D in ETFDH, a common Japanese variant, causes a mortal phenotype.

Yamada K et al.

Molecular Genetics and Metabolism Reports, 2022

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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."