Varaico: Literature-Extracted Genetic Variants

Gene:ETFDH
Variant:p.H112Y
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ETFDH

NM_004453.4:p.H112Y

Associated Papers

Mitochondrial HMG-CoA Synthase Deficiency in Vietnamese Patients.

Nguyen KN et al.

International Journal of Molecular Sciences, 2025

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

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

Olsen RK et al.

Brain : a Journal of Neurology, 2007

So doctor, what exactly is wrong with my muscles? Glutaric aciduria type II presenting in a teenager.

Beresford MW et al.

Neuromuscular Disorders : Nmd, 2006

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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."