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 |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 29438995 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Genomic Context Analysis of de Novo STXBP1 Mutations Identifies Evidence of Splice Site DNA-Motif Associated Hotspots. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Uddin+M%22">Uddin M</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Woodbury-Smith+M%22">Woodbury-Smith M</searchLink>; The Centre for Applied Genomics.; Institute of Neuroscience NE2 4HH is the postal code, Newcastle University, Newcastle upon Tyne, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Chan+AJS%22">Chan AJS</searchLink>; The Centre for Applied Genomics.; Program in Genetics and Genome Biology.; Department of Molecular Genetics and.<br /><searchLink fieldCode="AU" term="%22Albanna+A%22">Albanna A</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Minassian+B%22">Minassian B</searchLink>; Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates PO Box: 76662.<br /><searchLink fieldCode="AU" term="%22Boelman+C%22">Boelman C</searchLink>; Division of Neurology, and.<br /><searchLink fieldCode="AU" term="%22Scherer+SW%22">Scherer SW</searchLink>; 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. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101566598%22">G3 (Bethesda, Md.)</searchLink> [G3 (Bethesda)] 2018 Mar 28; Vol. 8 (4), pp. 1115-1118. <i>Date of Electronic Publication: </i>2018 Mar 28. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Research Support, Non-U.S. Gov't – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Oxford+University+Press%22">Oxford University Press </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101566598 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>2160-1836 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2221601836%22">21601836 </searchLink><i>NLM ISO Abbreviation: </i>G3 (Bethesda) <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=29438995 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1534/g3.118.200080 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 1115 Titles: – TitleFull: Genomic Context Analysis of de Novo STXBP1 Mutations Identifies Evidence of Splice Site DNA-Motif Associated Hotspots. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Uddin M – PersonEntity: Name: NameFull: Woodbury-Smith M – PersonEntity: Name: NameFull: Chan AJS – PersonEntity: Name: NameFull: Albanna A – PersonEntity: Name: NameFull: Minassian B – PersonEntity: Name: NameFull: Boelman C – PersonEntity: Name: NameFull: Scherer SW IsPartOfRelationships: – BibEntity: Dates: – D: 28 M: 03 Text: 2018 Mar 28 Type: published Y: 2018 Identifiers: – Type: issn-electronic Value: 2160-1836 Numbering: – Type: volume Value: 8 – Type: issue Value: 4 Titles: – TitleFull: G3 (Bethesda, Md.) Type: main |
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