Varaico: Literature-Extracted Genetic Variants

Gene:ETFDH
Variant:p.A403V
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ETFDH

NM_004453.4:p.A403V

Associated Papers

PET/CT and exome sequencing in late onset multiple acyl-CoA dehydrogenase deficiency: a case series and literature review.

Lin DF et al.

Bmc Medical Genomics, 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

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

Trakadis Y et al.

Molecular Genetics and Metabolism, 2012

Clinical and genetic analysis of lipid storage myopathies.

Ohkuma A et al.

Muscle & Nerve, 2009

Clinical and molecular investigations of Japanese cases of glutaric acidemia type 2.

Yotsumoto Y et al.

Molecular Genetics and Metabolism, 2008

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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."