Varaico: Literature-Extracted Genetic Variants

Gene:ACADM
Variant:p.V283_V284Splc
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ACADM

NM_000016.6:p.V283_V284Splc

Associated Papers

Medium-chain acyl-CoA dehydrogenase deficiency: Two novel ACADM mutations identified in a retrospective screening.

Smon A et al.

The Journal of International Medical Research, 2018

A novel tandem mass spectrometry method for rapid confirmation of medium- and very long-chain acyl-CoA dehydrogenase deficiency in newborns.

ter Veld F et al.

Plos One, 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."