Associated Papers
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar
Diagnostic challenge for the rare lysosomal storage disease: Late infantile GM1 gangliosidosis.
Lee JS et al.
Brain & Development, 2018
GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase.
Hofer D et al.
Human Mutation, 2009
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