Varaico: Literature-Extracted Genetic Variants

Gene:ACADVL
Variant:p.A416S
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ACADVL

NM_000018.4:p.A416S

Associated Papers

The Pathogenesis of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency.

Sharma S et al.

Biomolecules, 2025

The diagnostic challenge in very-long chain acyl-CoA dehydrogenase deficiency (VLCADD).

Hesse J et al.

Journal of Inherited Metabolic Disease, 2018

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

VLCAD deficiency: Follow-up and outcome of patients diagnosed through newborn screening in Victoria.

Evans M et al.

Molecular Genetics and Metabolism, 2016

Neurodevelopmental profiles of children with very long chain acyl-CoA dehydrogenase deficiency diagnosed by newborn screening.

Brown A et al.

Molecular Genetics and Metabolism, 2014

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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."