Varaico: Literature-Extracted Genetic Variants

Gene:ETFDH
Variant:p.F128S
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ETFDH

NM_004453.4:p.F128S

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

ETF dehydrogenase advances in molecular genetics and impact on treatment.

Missaglia S et al.

Critical Reviews in Biochemistry and Molecular Biology, 2021

Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency.

Grünert SC

Orphanet Journal of Rare Diseases, 2014

25200064 (PubMed )
Supplement: s13023-014-0117-5-S1.doc

Fatty Acid oxidation disorders in a chinese population in taiwan.

Chien YH et al.

Jimd Reports, 2013

Computational analysis of a novel mutation in ETFDH gene highlights its long-range effects on the FAD-binding motif.

Er TK et al.

Bmc Structural Biology, 2011

Two novel mutations in phenylalanine hydroxylase gene and in vitro expression analysis on mutation Arg252Gln.

Zhang M et al.

Chinese Medical Sciences Journal = Chung-kuo I Hsueh K'o Hsueh Tsa Chih, 1997

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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."