Varaico: Literature-Extracted Genetic Variants

Gene:ARSL
Variant:p.G490S
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ARSL

NM_000047.3:p.G490S

Associated Papers

VarMeter: a prediction method for the impact of glycogene variants.

Ohno S et al.

Journal of Human Genetics, 2025

Predicting the pathogenicity of missense variants based on protein instability to support diagnosis of patients with novel variants of ARSL.

Aoki E et al.

Molecular Genetics and Metabolism Reports, 2023

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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."