Open access
Aug 2026
Improving molecular diagnosis of fabry disease: functional validation of novel splicing variants in GLA
The findings highlight the critical role of robust functional splicing assays in interpreting variant pathogenicity, establishing accurate genotype-phenotype correlations, and ultimately facilitating precision medicine for FD.
Jingwen Zhou, Ai-Ping Mao, Jie Feng et al.
· Orphanet Journal of Rare Dis... · 0 citations