Open access
Oct 2026
Novel GLA Variants: 10 Experts’ Tips for the Clinical Assessment of Fabry Disease
The increasing use of next-generation sequencing (NGS), including multigene panels and exome and genome sequencing, has led to increased identification of rare and previously unreported variants in Mendelian disorders, though evidence supporting their clinical interpretation remains limited. In Fabry disease (FD), this...
F. Pieruzzi, R. Mignani, S. Feriozzi et al.
· Journal of Clinical Medicine · 0 citations