Varaico: Literature-Extracted Genetic Variants

Gene:ETFDH
Variant:p.Y465insFs
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ETFDH

NM_004453.4:p.Y465insFs

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

Clinical, pathological and genetic features and follow-up of 110 patients with late-onset MADD: a single-center retrospective study.

Wen B et al.

Human Molecular Genetics, 2022

Late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (MADD): case reports and epidemiology of ETFDH gene mutations.

Chen W et al.

Bmc Neurology, 2019

31852447 (PubMed )
Supplement: 12883_2019_1562_MOESM1_ESM.docx

[Analysis of ETFDH gene variation in a Chinese family affected with lipid storage myopathy].

Xia Y et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 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."