Varaico: Literature-Extracted Genetic Variants

Gene:ACADL
Variant:p.G391_Y392insFs
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ACADL

NM_001608.4:p.G391_Y392insFs

Associated Papers

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

Sharma S et al.

Biomolecules, 2025

Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database.

Pena LD et al.

Molecular Genetics and Metabolism, 2016

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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."