Varaico: Literature-Extracted Genetic Variants

Gene:ACADVL
Variant:p.G290delFs
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ACADVL

NM_000018.4:p.G290delFs

Associated Papers

Improving newborn screening accuracy through genome sequencing, targeted metabolomics, and machine learning.

Xie Y et al.

Bmc Medical Genomics, 2025

41257776 (PubMed )
Supplement: 12920_2025_2261_MOESM2_ESM.xlsx › Table_S1__NBS_119set

Adult-onset very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD).

Fatehi F et al.

European Journal of Neurology, 2020

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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."