Varaico: Literature-Extracted Genetic Variants

Gene:ACADM
Variant:p.L128fs
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ACADM

NM_000016.6:p.L128fs

Associated Papers

Prevalence and Mutation Analysis of Medium-Chain Acyl-CoA Dehydrogenase Deficiency Detected by Newborn Screening in Hefei, China.

Hu H et al.

International Journal of Neonatal Screening, 2025

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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."