Varaico: Literature-Extracted Genetic Variants

Gene:ACADVL
Variant:p.A45D
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ACADVL

NM_000018.4:p.A45D

Associated Papers

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

Sharma S et al.

Biomolecules, 2025

Very long-chain acyl-CoA dehydrogenase deficiency revisited: a retrospective genotype-phenotype analysis in a Saudi tertiary center.

Alhumaidi SS et al.

Frontiers in Genetics, 2025

The First Reported Case of a Child with Two Different Rare Metabolic Disorders: Very Long-Chain Acyl-CoA Dehydrogenase Deficiency and Encephalomyopathic Mitochondrial DNA Depletion Syndrome 13.

Alotaibi M et al.

Global Medical Genetics, 2023

Molecular and clinical characteristics of very-long-chain acyl-CoA dehydrogenase deficiency: A single-center experience in Saudi Arabia.

Alhashem A et al.

Saudi Medical Journal, 2020

Clinical, Biochemical, and Molecular Features in 37 Saudi Patients with Very Long Chain Acyl CoA Dehydrogenase Deficiency.

Obaid A et al.

Jimd Reports, 2018

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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."