Varaico: Literature-Extracted Genetic Variants

Gene:ETFDH
Variant:p.G191S
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ETFDH

NM_004453.4:p.G191S

Associated Papers

A compound heterozygote case of glutaric aciduria type II in a patient carrying a novel candidate variant in ETFDH gene: A case report and literature review on compound heterozygote cases.

Seyedtaghia MR et al.

Molecular Genetics & Genomic Medicine, 2024

Lipid storage myopathies: Current treatments and future directions.

Vasiljevski ER et al.

Progress in Lipid Research, 2018

Multiple acyl-CoA dehydrogenase deficiency (MADD) as a cause of late-onset treatable metabolic disease.

Béhin A et al.

Revue Neurologique, 2016

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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."