Varaico: Literature-Extracted Genetic Variants

Gene:ETFA
Variant:p.K333R
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ETFA

NM_000126.4:p.K333R

Associated Papers

Newborn screening for fatty acid oxidation disorders in a southern Chinese population.

Lin Y et al.

Heliyon, 2024

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

Molecular analysis of 51 unrelated pedigrees with late-onset multiple acyl-CoA dehydrogenation deficiency (MADD) in southern China confirmed the most common ETFDH mutation and high carrier frequency of c.250G>A.

Wang ZQ et al.

Journal of Molecular Medicine (berlin, Germany), 2011

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