Varaico: Literature-Extracted Genetic Variants

Gene:ETFDH
Variant:p.E557K
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ETFDH

NM_004453.4:p.E557K

Associated Papers

Dried Blood Spot Postmortem Metabolic Autopsy With Genotype Validation for Sudden Unexpected Deaths in Infancy and Childhood in Hong Kong.

Hung LY et al.

Cureus, 2024

Multiple Acyl-CoA Dehydrogenase Deficiency: A Rare Cause of Hepatomegaly.

Nana Sede Mbakop R et al.

Acg Case Reports Journal, 2023

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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."