Varaico: Literature-Extracted Genetic Variants

Gene:ARSA
Variant:p.P193L
Back to variants list

ARSA

NM_000487.6:p.P193L

Associated Papers

Metachromatic leukodystrophy genotypes in The Netherlands reveal novel pathogenic ARSA variants in non-Caucasian patients.

Beerepoot S et al.

Neurogenetics, 2020

32632536 (PubMed )
Supplement: 10048_2020_621_MOESM1_ESM.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."