C-terminal Frameshift Variants in GPKOW Are Associated with a Multisystemic X-linked Disorder.
Jung-Wan Mok,Laura Mackay, Maria Blazo,Elizabeth Mizerik,Jozef Gecz, Renee Carroll,Mathilde Nizon, Sophie Rondeau,Madeleine Joubert, Silvestre Cuinat,Wallid Deb, Fernanda Valle Sirias,Monika Weisz-Hubshman,Shamika Ketkar,Urszula Polak, Alyssa A Tran,Debra Kearney,Neil A Hanchard,Oguz Kanca,Michael F Wangler,Hugo J Bellen, Brendan H Lee, Baylor College of Medicine Center for Precision Medicine Models,Shinya Yamamoto,Keren Machol Genetics in medicine official journal of the American College of Medical Genetics（2025）
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