Varaico: Literature-Extracted Genetic Variants

Gene:ACADM
Variant:p.L128M
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ACADM

NM_000016.6:p.L128M

Associated Papers

Vulnerable exons, like ACADM exon 5, are highly dependent on maintaining a correct balance between splicing enhancers and silencers.

Holm LL et al.

Human Mutation, 2022

Newborn screening for MCAD deficiency: experience of the first three years in British Columbia, Canada.

Horvath GA et al.

Canadian Journal of Public Health = Revue Canadienne De Sante Publique, 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."