Varaico: Literature-Extracted Genetic Variants

Gene:ARSL
Variant:p.S102L
Back to variants list

ARSL

NM_000047.3:p.S102L

Associated Papers

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

38053926 (PubMed )
Supplement: mmc1.pdf
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."