Varaico: Literature-Extracted Genetic Variants

Gene:ETFDH
Variant:p.T402S
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ETFDH

NM_004453.4:p.T402S

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

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

Two novel ETFDH mutations in a patient with lipid storage myopathy.

Xu HL et al.

Chinese Medical Journal, 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."