Varaico: Literature-Extracted Genetic Variants

Gene:ETFB
Variant:p.M199_K200Splc
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ETFB

NM_001985.3:p.M199_K200Splc

Associated Papers

Efficacy of bezafibrate on fibroblasts of glutaric acidemia type II patients evaluated using an in vitro probe acylcarnitine assay.

Yamada K et al.

Brain & Development, 2017

A novel ETFB mutation in a patient with glutaric aciduria type II.

Sudo Y et al.

Human Genome Variation, 2015

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

Yotsumoto Y et al.

Molecular Genetics and Metabolism, 2008

Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency.

Olsen RK et al.

Human Mutation, 2003

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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."