Varaico: Literature-Extracted Genetic Variants

Gene:ACADVL
Variant:p.F458L
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ACADVL

NM_000018.4:p.F458L

Associated Papers

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

Sharma S et al.

Biomolecules, 2025

An Overview of Mitochondrial Protein Defects in Neuromuscular Diseases.

Marra F et al.

Biomolecules, 2021

Pervasive inflammatory activation in patients with deficiency in very-long-chain acyl-coA dehydrogenase (VLCADD).

Vallejo AN et al.

Clinical & Translational Immunology, 2021

MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.

Fukasawa Y et al.

Molecular & Cellular Proteomics : Mcp, 2015

25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9A

Genetic defects in fatty acid beta-oxidation and acyl-CoA dehydrogenases. Molecular pathogenesis and genotype-phenotype relationships.

Gregersen N et al.

European Journal of Biochemistry, 2004

Clinical and molecular heterogeneity in very-long-chain acyl-coenzyme A dehydrogenase deficiency.

Pons R et al.

Pediatric Neurology, 2000

Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and sudden death.

Mathur A et al.

Circulation, 1999

Reversal of severe hypertrophic cardiomyopathy and excellent neuropsychologic outcome in very-long-chain acyl-coenzyme A dehydrogenase deficiency.

Cox GF et al.

The Journal of Pediatrics, 1998

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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."