Genomic Context Analysis of de Novo STXBP1 Mutations Identifies Evidence of Splice Site DNA-Motif Associated Hotspots.
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| Title: | Genomic Context Analysis of de Novo STXBP1 Mutations Identifies Evidence of Splice Site DNA-Motif Associated Hotspots. |
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| Authors: | Uddin M; Mohammed Bin Rashid University of Medicine and Health Sciences, College of Medicine, 505055 Dubai, United Arab Emirates 505055, mohammed.uddin@mbru.ac.ae Stephen.Scherer@sickkids.ca.; The Centre for Applied Genomics., Woodbury-Smith M; The Centre for Applied Genomics.; Institute of Neuroscience NE2 4HH is the postal code, Newcastle University, Newcastle upon Tyne, United Kingdom., Chan AJS; The Centre for Applied Genomics.; Program in Genetics and Genome Biology.; Department of Molecular Genetics and., Albanna A; Mohammed Bin Rashid University of Medicine and Health Sciences, College of Medicine, 505055 Dubai, United Arab Emirates 505055.; Division of Neurology, BC Children's Hospital, Vancouver, BC, Canada V6H 3N1, and., Minassian B; Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates PO Box: 76662., Boelman C; Division of Neurology, and., Scherer SW; The Centre for Applied Genomics, mohammed.uddin@mbru.ac.ae Stephen.Scherer@sickkids.ca.; Program in Genetics and Genome Biology.; Department of Molecular Genetics and.; McLaughlin Centre, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada M5G 1X8. |
| Source: | G3 (Bethesda, Md.) [G3 (Bethesda)] 2018 Mar 28; Vol. 8 (4), pp. 1115-1118. Date of Electronic Publication: 2018 Mar 28. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Oxford University Press Country of Publication: England NLM ID: 101566598 Publication Model: Electronic Cited Medium: Internet ISSN: 2160-1836 (Electronic) Linking ISSN: 21601836 NLM ISO Abbreviation: G3 (Bethesda) Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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