Varaico: Literature-Extracted Genetic Variants

Gene:ARSA
Variant:p.D409G
Back to variants list

ARSA

NM_000487.6:p.D409G

Associated Papers

ARSA Variant Associated With Late Infantile Metachromatic Leukodystrophy and Carrier Rate in Individuals of Ashkenazi Jewish Ancestry.

Rabin R et al.

American Journal of Medical Genetics. Part A, 2025

Lysosomal Storage Disorders in Egyptian Children.

Elmonem MA et al.

Indian Journal of Pediatrics, 2016

Pharmacological chaperone therapy for Gaucher disease: a patent review.

Benito JM et al.

Expert Opinion on Therapeutic Patents, 2011

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."