Review
Aug 2026
Novel splice site variants in GBA1 are associated with Gaucher disease and genotype-phenotype correlations.
This study identified compound heterozygous GBA1 variants, including two novel candidate pathogenic splice site variants, in Gaucher disease type 3 patients, expanding the known mutational spectrum.
Yang-Mei Ou, Ming-Feng He, Fu-Jiang Yan et al.
· Brain & development (Tokyo.... · 0 citations