Varaico: Literature-Extracted Genetic Variants

Gene:ACADVL
Variant:p.N252S
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ACADVL

NM_000018.4:p.N252S

Associated Papers

Biochemical and molecular characteristics among infants with abnormal newborn screen for very-long-chain acyl-CoA dehydrogenase deficiency: A single center experience.

Upadia J et al.

Molecular Genetics and Metabolism Reports, 2023

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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."