Varaico: Literature-Extracted Genetic Variants

Gene:ACADM
Variant:p.Y158C
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ACADM

NM_000016.6:p.Y158C

Associated Papers

In vitro and in vivo consequences of variant medium-chain acyl-CoA dehydrogenase genotypes.

Touw CM et al.

Orphanet Journal of Rare Diseases, 2013

Neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in The Netherlands: the importance of enzyme analysis to ascertain true MCAD deficiency.

Derks TG et al.

Journal of Inherited Metabolic Disease, 2008

[Deficiency of the fatty-acid oxidising enzyme medium-chain acyl-CoA dehydrogenase (MCAD) in an adult, detected during a neonatal screening programme].

Derks TG et al.

Nederlands Tijdschrift Voor Geneeskunde, 2004

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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."