@misc{indiciae565ad2592f04, title = {Novel splice site variants in GBA1 are associated with Gaucher disease and genotype-phenotype correlations.}, author = {Yang-Mei Ou and Ming-Feng He and Fu-Jiang Yan and Tian-Xiang Teng and Zhi-Cong Fan and Qing Zhou and Hua Li and Xiang-Shu Hu and Kai Peng and Chun-Xia Huang and Yu-Sheng Zhang}, year = {2026}, doi = {10.1016/j.braindev.2026.104584}, url = {https://pubmed.ncbi.nlm.nih.gov/42632194/}, note = {Source identifier: 42632194} }