Varaico: Literature-Extracted Genetic Variants

Gene:ACADM
Variant:p.W82insFs
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ACADM

NM_000016.6:p.W82insFs

Associated Papers

Characterization of the molecular spectrum of Medium-Chain Acyl-CoA Dehydrogenase Deficiency in a Greek newborns cohort: identification of a novel variant.

Thodi G et al.

Clinical Biochemistry, 2012

Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency.

Maier EM et al.

Human Mutation, 2005

Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: a global perspective.

Rhead WJ

Journal of Inherited Metabolic Disease, 0

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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."