Varaico: Literature-Extracted Genetic Variants

Gene:ETFA
Variant:p.G151delFs
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ETFA

NM_000126.4:p.G151delFs

Associated Papers

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

Significant clinical heterogeneity with similar ETFDH genotype in three Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency.

Fu HX et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2016

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