Varaico: Literature-Extracted Genetic Variants

Gene:ACADVL
Variant:p.S207P
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ACADVL

NM_000018.4:p.S207P

Associated Papers

Identification of four novel ACADVL variants in eight Chinese unrelated patients with very long-chain acyl-CoA dehydrogenase deficiency.

Dong L et al.

Endocrine, 2025

Rare Korean Cases of Very-long-chain Acyl-CoA Dehydrogenase Deficiency with a Novel Recurrent Mutation.

Ko JM et al.

Annals of Clinical and Laboratory Science, 2016

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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."