Publication
Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinoma
Mengqi Ma, Mythily Ganapathi, Yiming Zheng, Kai-Li Tan, Oguz Kanca, Kevin E. Bove, Norma Quintanilla, Sebnem O. Sag, Sehime G. Temel, Charles A. LeDuc, Amanda J. McPartland, Elaine M. Pereira, Yufeng Shen, Jacob Hagen, Christie P. Thomas, Nhu Thao Nguyen Galván, Xueyang Pan, Shenzhao Lu, Jill A. Rosenfeld, Daniel G. Calame, Michael F. Wangler, James R. Lupski, Davut Pehlivan, Paula M. Hertel, Wendy K. Chung, Hugo J. Bellen
Genetics in Medicine, July 2024, Elsevier
DOI: 10.1016/j.gim.2024.101125