Varaico: Literature-Extracted Genetic Variants

Gene:ETFDH
Variant:p.G116R
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ETFDH

NM_004453.4:p.G116R

Associated Papers

[Reye syndrome and sudden death symptoms after oral administration of nimesulide due to upper respiratory tract infection in a boy].

Feng LF et al.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2018

Mutational hotspots in electron transfer flavoprotein underlie defective folding and function in multiple acyl-CoA dehydrogenase deficiency.

Henriques BJ et al.

Biochimica Et Biophysica Acta, 2010

Binding of the human "electron transferring flavoprotein" (ETF) to the medium chain acyl-CoA dehydrogenase (MCAD) involves an arginine and histidine residue.

Parker AR

Journal of Enzyme Inhibition and Medicinal Chemistry, 2003

Expression and characterization of two pathogenic mutations in human electron transfer flavoprotein.

Salazar D et al.

The Journal of Biological Chemistry, 1997

Three-dimensional structure of human electron transfer flavoprotein to 2.1-A resolution.

Roberts DL et al.

Proceedings of the National Academy of Sciences of the United States of America, 1996

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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."