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GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy
Authors:Yongjin Yoo BS  Jane Jung BS  Yoo‐Na Lee BS  Youngha Lee MS  Hyosuk Cho BS  Eunjung Na BS  JeaYeok Hong BS  Eunjin Kim MS  Jin Sook Lee MD  PhD  Je Sang Lee MD  Chansik Hong PhD  Sang‐Yoon Park PhD  Jinhong Wie PhD  Kathryn Miller CGC  Natasha Shur MD  Cheryl Clow RN  Roseànne S. Ebel MS  Suzanne D. DeBrosse MD  Lindsay B. Henderson PhD  Rebecca Willaert MS  MA   CGC  Christopher Castaldi MS  Irina Tikhonova MS  Kaya Bilgüvar MD  Shrikant Mane PhD  Ki Joong Kim MD  PhD  Yong Seung Hwang MD  PhD  Seok‐Geun Lee PhD  Insuk So MD  PhD  Byung Chan Lim MD  PhD  Hee‐Jung Choi PhD  Jae Young Seong PhD  Yong Beom Shin MD  PhD  Hosung Jung PhD  Jong‐Hee Chae MD  PhD  Murim Choi PhD
Affiliation:1. Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Republic of Korea;2. Department of Anatomy, Brain Research Institute, and Brain Korea 21 PLUS Project for Medical Science, Yonsei University College of Medicine, Seoul, Republic of Korea;3. Graduate School of Medicine, Korea University, Seoul, Republic of Korea;4. Department of Pediatrics, Department of Genome Medicine and Science, Gachon University Gil Medical Center, Incheon, Republic of Korea;5. Department of Rehabilitation Medicine, Pusan National University College of Medicine, Pusan, Republic of Korea;6. Department of Physiology, Chosun University School of Medicine, Kwangju, Republic of Korea;7. Department of Science in Korean Medicine, Cancer Preventive Material Developmental Research Center, College of Korean Medicine, Kyung Hee University, Seoul, Republic of Korea;8. Department of Physiology, Seoul National University College of Medicine, Seoul, Republic of Korea;9. Albany Medical Center, Albany, NY;10. UH Cleveland Medical Center, Center for Human Genetics, Cleveland, OH;11. GeneDx, Gaithersburg, MD;12. Yale Center for Genome Analysis, West Haven, CT;13. Department of Genetics, Yale University School of Medicine, New Haven, CT;14. Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, Republic of Korea;15. Department of Biological Sciences, Seoul National University College of Natural Sciences, Seoul, Republic of Korea
Abstract:
Keywords:
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