Cell BiologybioRxivPreprint
Subtle Cellular Phenotypes Inform Pathological and Benign Genetic Mutants in the Iduronidase-2 Sulfatase Gene
Anushka Viswanathan, Serena N Elia, Steven Q. Le…·Patricia Dickson
This study uses genome-engineered cells with IDS mutations to identify subtle lysosomal and membrane phenotypes that correlate with genetic variants in the IDS gene, improving the assessment of variant pathogenicity.
DOI 10.1101/2025.04.17.649412