Varaico: Literature-Extracted Genetic Variants

Gene:ACADVL
Variant:p.A281G
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ACADVL

NM_000018.4:p.A281G

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
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