Varaico: Literature-Extracted Genetic Variants

Gene:ETFDH
Variant:p.G429R
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ETFDH

NM_004453.4:p.G429R

Associated Papers

ETF dehydrogenase advances in molecular genetics and impact on treatment.

Missaglia S et al.

Critical Reviews in Biochemistry and Molecular Biology, 2021

ETF-QO Mutants Uncoupled Fatty Acid β-Oxidation and Mitochondrial Bioenergetics Leading to Lipid Pathology.

Chokchaiwong S et al.

Cells, 2019

Metabolic lipid muscle disorders: biomarkers and treatment.

Angelini C et al.

Therapeutic Advances in Neurological Disorders, 2019

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

Molecular mechanisms of riboflavin responsiveness in patients with ETF-QO variations and multiple acyl-CoA dehydrogenation deficiency.

Cornelius N et al.

Human Molecular Genetics, 2012

ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.

Olsen RK et al.

Brain : a Journal of Neurology, 2007

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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."