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Pathogenic variants detected by RNA sequencing in Cornelia de Lange syndrome
Institution:1. Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan;2. Department of Obstetrics and Gynecology, Juntendo University, Tokyo, Japan;3. Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama, Japan;4. Genetics Unit, Instituto da Crianca, Faculdade de Medicina, Universidade de Sao Paulo, Brazil;5. Department of Neonatal Medicine, Yokohama City University Medical Center, Yokohama, Japan;6. Department of Clinical Genetics, Yokohama City University Hospital, Yokohama, Japan;7. Department of Obstetrics and Gynecology, Juntendo University Urayasu Hospital, Urayasu, Japan
Abstract:
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