Varaico: Literature-Extracted Genetic Variants

Gene:ETFDH
Variant:p.W131C
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ETFDH

NM_004453.4:p.W131C

Associated Papers

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

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

Increased muscle coenzyme Q10 in riboflavin responsive MADD with ETFDH gene mutations due to secondary mitochondrial proliferation.

Wen B et al.

Molecular Genetics and Metabolism, 2013

Pregnancy of a patient with multiple Acyl-CoA dehydrogenation deficiency (MADD).

Trakadis Y et al.

Molecular Genetics and Metabolism, 2012

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

Riboflavin-responsive lipid-storage myopathy caused by ETFDH gene mutations.

Wen B et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2010

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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."