Varaico: Literature-Extracted Genetic Variants

Gene:ACADVL
Variant:p.E414D
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ACADVL

NM_000018.4:p.E414D

Associated Papers

Identification of four novel ACADVL variants in eight Chinese unrelated patients with very long-chain acyl-CoA dehydrogenase deficiency.

Dong L et al.

Endocrine, 2025

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

Fatehi F et al.

European Journal of Neurology, 2020

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar

A heterozygous missense mutation in adolescent-onset very long-chain acyl-CoA dehydrogenase deficiency with exercise-induced rhabdomyolysis.

Hisahara S et al.

The Tohoku Journal of Experimental Medicine, 2015

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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."