Varaico: Literature-Extracted Genetic Variants

Gene:ETFDH
Variant:p.S515I
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ETFDH

NM_004453.4:p.S515I

Associated Papers

PET/CT and exome sequencing in late onset multiple acyl-CoA dehydrogenase deficiency: a case series and literature review.

Lin DF et al.

Bmc Medical Genomics, 2025

Hepatic Presentation of Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD): Case Report and Systematic Review.

Siano MA et al.

Frontiers in Pediatrics, 2021

Clinical, biochemical and molecular investigation of adult-onset glutaric acidemia type II: Characteristics in comparison with pediatric cases.

Yamada K et al.

Brain & Development, 2016

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

Novel ETFDH mutation and imaging findings in an adult with glutaric aciduria type II.

Rosenbohm A et al.

Muscle & Nerve, 2014

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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."