Varaico: Literature-Extracted Genetic Variants

Gene:ACADVL
Variant:p.R613P
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ACADVL

NM_000018.4:p.R613P

Associated Papers

Very long-chain acyl-CoA dehydrogenase deficiency in a Swedish cohort: Clinical symptoms, newborn screening, enzyme activity, and genetics.

Olsson D et al.

Jimd Reports, 2022

Altered mitochondrial metabolism in peripheral blood cells from patients with inborn errors of β-oxidation.

Stenlid R et al.

Clinical and Translational Science, 2022

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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."