Varaico: Literature-Extracted Genetic Variants

Gene:ETFDH
Variant:p.E246K
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ETFDH

NM_004453.4:p.E246K

Associated Papers

Spinal Cord Involvement in Patients with Adult-Onset Multiple Acyl-CoA Dehydrogenase Deficiency.

Wang W et al.

Neuromolecular Medicine, 2026

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

Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.

Huang Q et al.

Human Genomics, 2024

39380106 (PubMed )
Supplement: 40246_2024_680_MOESM1_ESM.xlsx › Supplementary_Table_3

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

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

Siano MA et al.

Frontiers in Pediatrics, 2021

Investigation of adult-onset multiple acyl-CoA dehydrogenase deficiency associated with peripheral neuropathy.

Huang K et al.

Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2020

Late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (MADD): case reports and epidemiology of ETFDH gene mutations.

Chen W et al.

Bmc Neurology, 2019

31852447 (PubMed )
Supplement: 12883_2019_1562_MOESM1_ESM.docx

Acute-onset multiple acyl-CoA dehydrogenase deficiency mimicking Guillain-Barré syndrome: two cases report.

Hong D et al.

Bmc Neurology, 2018

Long-term outcomes of a patient with late-onset multiple acyl-CoA dehydrogenase deficiency caused by novel mutations in ETFDH: A case report.

Wang J et al.

Medicine, 2018

Aromatase inhibition remodels the clonal architecture of estrogen-receptor-positive breast cancers.

Miller CA et al.

Nature Communications, 2016

27502118 (PubMed )
Supplement: ncomms12498-s3.xls › Sheet1

A case of late-onset riboflavin responsive multiple acyl-CoA dehydrogenase deficiency (MADD) with a novel mutation in ETFDH gene.

Zhuo Z et al.

Journal of the Neurological Sciences, 2015

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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."