Varaico: Literature-Extracted Genetic Variants

Gene:ETFDH
Variant:p.G429Splc
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ETFDH

NM_004453.4:p.G429Splc

Associated Papers

Genotype-Phenotype Correlation of ETF Dehydrogenase Gene-Related Multiple Acyl-CoA Dehydrogenation Deficiency in Chinese Patients.

Liang H et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2025

The clinical, pathological, and genetic characteristics of lipid storage myopathy in northern China.

Han J et al.

Turkish Journal of Medical Sciences, 2022

Characterization of 31 Patients with Riboflavin-Responsive Multiple acyl-CoA Dehydrogenase Deficiency

Zhang J et al.

Balkan Medical Journal, 2022

A family with riboflavin-reactive lipid deposition myopathy caused by a novel compound heterozygous mutation in the electron transfer flavoprotein dehydrogenase gene.

Wu Y et al.

The Journal of International Medical Research, 2020

Adolescent Hyperuricemia with Lipid Storage Myopathy: A Clinical Study.

Han J et al.

Medical Science Monitor : International Medical Journal of Experimental and Clinical Research, 2019

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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."