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Genomic Context Analysis of de Novo STXBP1 Mutations Identifies Evidence of Splice Site DNA-Motif Associated Hotspots

Lookup NU author(s): Dr Muhammad Uddin, Dr Marc Woodbury-Smith, Ayman Albanna

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Author(s): Uddin M, Woodbury-Smith M, Chan A, Albanna A, Minassian B, Boelman C, Scherer S

Publication type: Article

Publication status: Published

Journal: G3: Genes, Genomes, Genetics

Year: 2018

Volume: 8

Issue: 4

Pages: 1115-1118

Print publication date: 01/04/2018

Online publication date: 08/02/2018

Acceptance date: 05/02/2018

Date deposited: 09/03/2018

ISSN (print): 1749-0383

ISSN (electronic): 2160-1836

Publisher: Genetics Society of America

URL: https://doi.org/10.1534/g3.118.200080

DOI: 10.1534/g3.118.200080

PubMed id: 29438995

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