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Novel KAT6B proximal familial variant expands genotypic and phenotypic spectrum |
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| Authors: | T. Michael Yates Claire L.M. Langley DDD Study Detelina Grozeva F. Lucy Raymond Diana S. Johnson |
| Affiliation: | 1. Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK;2. Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester, UK;3. Wellcome Trust Sanger Institute, Cambridge, UK;4. Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK |
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