Varaico: Literature-Extracted Genetic Variants

Gene:ACADVL
Variant:p.H181insFs
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ACADVL

NM_000018.4:p.H181insFs

Associated Papers

Direct Prediction of VLCADD Severity Using Newborn Screening Analyte Data.

Schwantje M et al.

Journal of Inherited Metabolic Disease, 2026

Monocyte and macrophage profiles in patients with inherited long-chain fatty acid oxidation disorders.

Verberk SGS et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2025

Tracer-based lipidomics enables the discovery of disease-specific candidate biomarkers in mitochondrial β-oxidation disorders.

Schwantje M et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2024

High-resolution melting analysis, a simple and effective method for reliable mutation scanning and frequency studies in the ACADVL gene.

Olsen RK et al.

Journal of Inherited Metabolic Disease, 2010

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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."