Haiping Wang Xiuli Chen Zhanli Liu Chen Chen Xin Liu Mingwei Huang Zhuying Zhou
10.3389/fneur.2023.1146875
Front Neurol
2023 Mar 28;14:1146875.
ohtahara syndrome rt-pcr stxbp1-related disorder epilepsy functional study genotype-phenotype relationship intron retention splice variant
CC BY
https://pubmed.ncbi.nlm.nih.gov/37056358/
Case Reports
PMC10086123
37056358
Case report: A novel STXBP1 splice variant and the landscape of splicing-involved STXBP1-related disorders
2023