Varaico: Literature-Extracted Genetic Variants

Gene:ACADVL
Variant:p.P203delFs
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ACADVL

NM_000018.4:p.P203delFs

Associated Papers

Using the C14:1/Medium-Chain Acylcarnitine Ratio Instead of C14:1 to Reduce False-Positive Results for Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency in Newborn Screening in Japan.

Tajima G et al.

International Journal of Neonatal Screening, 2024

38390979 (PubMed )
Supplement: IJNS-10-00015-s001.zip › TableS1.pdf

The perioperative transition of serum biomarkers of a 1.5-year-old boy with very-long-chain acyl-CoA dehydrogenase deficiency.

Bo R et al.

Molecular Genetics and Metabolism Reports, 2021

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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."