Varaico: Literature-Extracted Genetic Variants

Gene:ETFDH
Variant:p.G467R
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ETFDH

NM_004453.4:p.G467R

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

Newborn screening for fatty acid oxidation disorders in a southern Chinese population.

Lin Y et al.

Heliyon, 2024

ETF dehydrogenase advances in molecular genetics and impact on treatment.

Missaglia S et al.

Critical Reviews in Biochemistry and Molecular Biology, 2021

A novel electron transfer flavoprotein dehydrogenase (ETFDH) gene mutation identified in a newborn with glutaric acidemia type II: a case report of a Chinese family.

Ou M et al.

Bmc Medical Genetics, 2020

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

Riboflavin-responsive multiple Acyl-CoA dehydrogenation deficiency in 13 cases, and a literature review in mainland Chinese patients.

Zhu M et al.

Journal of Human Genetics, 2014

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

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

Wen B et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2010

Novel mutations in ETFDH gene in Chinese patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.

Law LK et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2009

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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."