Varaico: Literature-Extracted Genetic Variants

Gene:ACADVL
Variant:p.R456G
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ACADVL

NM_000018.4:p.R456G

Associated Papers

Direct Prediction of VLCADD Severity Using Newborn Screening Analyte Data.

Schwantje M et al.

Journal of Inherited Metabolic Disease, 2026

Prediction of VLCAD deficiency phenotype by a metabolic fingerprint in newborn screening bloodspots.

Knottnerus SJG et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2020

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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."