Open access
Jun 2026
PURA-Related Neurodevelopmental Disorder: Insight from Eight New Cases
The identification of both novel and previously reported pathogenic variants expands the mutational spectrum of PURA and underscores the importance of integrating clinical, molecular, and bioinformatic data for accurate variant interpretation.
A. Madej-Pilarczyk, Marzena Gawlik, Beata Chałupczyńska et al.
· Genes · 0 citations