Varaico: Literature-Extracted Genetic Variants

Gene:ACADVL
Variant:p.T260P
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ACADVL

NM_000018.4:p.T260P

Associated Papers

Serum C14:1/C12:1 ratio is a useful marker for differentiating affected patients with very long-chain acyl-CoA dehydrogenase deficiency from heterozygous carriers.

Yamada K et al.

Molecular Genetics and Metabolism Reports, 2019

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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."