Varaico: Literature-Extracted Genetic Variants

Gene:ACADL
Variant:p.R17H
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ACADL

NM_001608.4:p.R17H

Associated Papers

Medium-chain Acyl-COA dehydrogenase deficiency: Pathogenesis, diagnosis, and treatment.

Mason E et al.

Endocrinology, Diabetes & Metabolism, 2023

Characterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screening.

Alfardan J et al.

Molecular Genetics and Metabolism, 2010

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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."