Varaico: Literature-Extracted Genetic Variants

Gene:ETFDH
Variant:p.T402I
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ETFDH

NM_004453.4:p.T402I

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

Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples.

Maier EM et al.

Journal of Inherited Metabolic Disease, 2023

Hyperhomocysteinemia in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.

Zhang H et al.

Muscle & Nerve, 2023

Clinical, pathological and genetic features and follow-up of 110 patients with late-onset MADD: a single-center retrospective study.

Wen B et al.

Human Molecular Genetics, 2022

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
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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."