Phenotypic study of humanized mice carrying the PAH deep intronic variant c.1199+502A>T. - Zhang, Chuan; Yan, Yousheng; Zhou, Bingbo; Gao, Huimin; Jin, Xiaohua; Hui, Ling; Hao, Shengju; Cao, Zongfu; Ma, Xu (Orphanet Journal of Rare Diseases, 2025)