Varaico: Literature-Extracted Genetic Variants

Gene:ETFA
Variant:p.L127H
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ETFA

NM_000126.4:p.L127H

Associated Papers

CHIP control degradation of mutant ETF:QO through ubiquitylation in late-onset multiple acyl-CoA dehydrogenase deficiency.

Liu XY et al.

Journal of Inherited Metabolic Disease, 2021

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

Siano MA et al.

Frontiers in Pediatrics, 2021

A Historical Cohort Study on the Efficacy of Glucocorticoids and Riboflavin Among Patients with Late-onset Multiple Acyl-CoA Dehydrogenase Deficiency.

Liu XY et al.

Chinese Medical Journal, 2016

High resolution melting analysis facilitates mutation screening of ETFDH gene: applications in riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.

Er TK et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2010

ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.

Liang WC et al.

Neuromuscular Disorders : Nmd, 2009

Two novel mutations in phenylalanine hydroxylase gene and in vitro expression analysis on mutation Arg252Gln.

Zhang M et al.

Chinese Medical Sciences Journal = Chung-kuo I Hsueh K'o Hsueh Tsa Chih, 1997

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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."