@article{Yang2025, 
author = {Aijun Yang and Xiaoli Kong and Qin Wang and Runqing Miao and Haixiang Ma and Anzhuo Chu and Zhengtong Wang and Jiaqing Lu and Bo Liu and Bingcheng Mu and Runhan Guo and Jiayi Li and Xiaoxiao Gongye and Huabao Xiong and Tao Zhong},
title = {Novel heterozygous missense variants in the TOE1 gene linked to pontocerebellar hypoplasia type 7},
year = {2025},
journal = {Genes & Diseases},
volume = {12},
number = {1},
pages = {101290},
url = {https://www.sciopen.com/article/10.1016/j.gendis.2024.101290},
doi = {10.1016/j.gendis.2024.101290},
abstract = {}
}