C-terminal frameshift variants in GPKOW are associated with a multisystemic X-linked disorder
GPKOW基因C端移码变异与一种多系统性X连锁疾病相关。
期刊:Genetics in Medicine
影响因子:6.2
doi:10.1016/j.gim.2025.101429
Mok, Jung-Wan; Mackay, Laura; Blazo, Maria; Mizerik, Elizabeth; Gecz, Jozef; Carroll, Renee; Nizon, Mathilde; Rondeau, Sophie; Joubert, Madeleine; Cuinat, Silvestre; Deb, Wallid; Valle Sirias, Fernanda; Weisz-Hubshman, Monika; Ketkar, Shamika; Polak, Urszula; Tran, Alyssa A; Kearney, Debra; Hanchard, Neil A; Kanca, Oguz; Wangler, Michael F; Bellen, Hugo J; Lee, Brendan H; Yamamoto, Shinya; Machol, Keren