Varaico: Literature-Extracted Genetic Variants

Gene:ETFDH
Variant:p.W57S
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ETFDH

NM_004453.4:p.W57S

Associated Papers

Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency.

Grünert SC

Orphanet Journal of Rare Diseases, 2014

25200064 (PubMed )
Supplement: s13023-014-0117-5-S1.doc

Riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency with unknown genetic defect.

Cotelli MS et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2012

Pregnancy of a patient with multiple Acyl-CoA dehydrogenation deficiency (MADD).

Trakadis Y et al.

Molecular Genetics and Metabolism, 2012

Novel mutations in ETFDH gene in Chinese patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.

Law LK et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2009

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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."