Varaico: Literature-Extracted Genetic Variants

Gene:ACADM
Variant:p.W82S
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ACADM

NM_000016.6:p.W82S

Associated Papers

Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency.

Couce ML et al.

Orphanet Journal of Rare Diseases, 2013

Relevance of expanded neonatal screening of medium-chain acyl co-a dehydrogenase deficiency: outcome of a decade in galicia (Spain).

Couce ML et al.

Jimd Reports, 2011

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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."