Varaico: Literature-Extracted Genetic Variants

Gene:ETFDH
Variant:p.P556R
Back to variants list

ETFDH

NM_004453.4:p.P556R

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

Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD): A Case Report With a Complex Biochemical Profile.

Penicaud R et al.

Jimd Reports, 2025

Neonatal-onset multiple acyl-CoA dehydrogenase deficiency (MADD) in the ETFDH gene: A case report and a literature review.

Ding M et al.

Medicine, 2020

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."