Prospective evaluation of the clinical utility of whole-exome sequencing using buccal swabbing for undiagnosed rare diseases |
Chong Kun Cheon
(Department of Pediatrics, Pusan National University Children's Hospital, Pusan National University School of Medicine)
Yong Beom Shin (Department of Rehabilitation, Pusan National University Hospital) Soo-Yeon Kim (Department of Rehabilitation Medicine, Pusan National University Yangsan Hospital, Pusan National University School of Medicine) Go Hun Seo (3billion Inc.) Hane Lee (3billion Inc.) Changwon Keum (3billion Inc.) Seung Hwan Oh (Department of Laboratory Medicine, Pusan National University Yangsan Hospital) |
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