Varaico: Literature-Extracted Genetic Variants

Gene:ACADVL
Variant:p.K444K
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ACADVL

NM_000018.4:p.K444K

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

[A case of very long chain acyl-CoA dehydrogenase deficiency diagnosed due to a trigger of hyperemesis gravidarum during pregnancy].

Shiraishi W et al.

Rinsho Shinkeigaku = Clinical Neurology, 2023

[A case of very-long-chain acyl-CoA dehydrogenase deficiency with adolescent onset being diagnosed by immunostain of biopsy muscle].

Sakata N et al.

Rinsho Shinkeigaku = Clinical Neurology, 2003

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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."