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Germline and somatic mutations in STXBP1 with diverse neurodevelopmental phenotypes

Lookup NU author(s): Dr Marc Woodbury-Smith

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Author(s): Uddin M, Woodbury-Smith M, Chan Ada, Brunga L, Lamoureux S, Pellecchia G, Yuen RKC, Faheem M, Stavropoulos DJ, Drake J, Hahn CD, Hawkins C, Shlien A, Marshall CR, Turner LA, Minassian B, Scherer SW, Boelman C

Publication type: Article

Publication status: Published

Journal: Neurology Genetics

Year: 2017

Volume: 3

Issue: 6

Online publication date: 18/12/2017

Acceptance date: 30/08/2017

ISSN (electronic): 2376-7839

Publisher: American Academy of Neurology

URL: https://doi.org/10.1212/NXG.0000000000000199

DOI: 10.1212/NXG.0000000000000199


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