CIC de novo loss of function variants contribute to cerebral folate deficiency by downregulating FOLR1 expression
Xuanye Cao, Annika Wolf, Sung-Eun Kim, Robert M. Cabrera, Bogdan J. Wlodarczyk, Huiping Zhu, Margaret Parker, Ying Lin, John W. Steele, Xiao Han, Vincent Th Ramaekers, Robert Steinfeld, Richard H. Finnell, Yunping Lei
Journal of Medical Genetics Jul 2021, 58 (7) 484-494; DOI: 10.1136/jmedgenet-2020-106987
