Oct 2026
Sialidosis Type II in Siblings with a Novel NEU1 Variant: Clinical and Molecular Genetic Analysis
W Whole-exome sequencing identified compound heterozygous NEU1 variants, including a previously reported pathogenic variant, c.679G > A (p.Gly227Arg), and a novel in-frame deletion, which is not represented in databases c.367_369del (p.Pro123del).
O. C. Mazur, S. Baiko, A. Mikhalenka et al.
· SN Comprehensive Clinical Me... · 0 citations