De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

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Ito, Yoko, Carss, Keren J, Duarte, Sofia T, Hartley, Taila, Keren, Boris, Kurian, Manju A, Marey, Isabelle, Charles, Perinne, Mendonca, Carla, Nava, Caroline et al (show 11 more authors) , Pfundt, Rolph, Sanchis-Juan, Alba, van Bokhoven, Hans, van Essen, Anthony, van Ravenswaaij-Arts, Conny, Boycott, Kym M, Kernohan, Kristin D, Dyack, Sarah, Raymond, F Lucy, BioResource, NIHR and Consortium, Care4Rare Canada (2018) De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures. AMERICAN JOURNAL OF HUMAN GENETICS, 103 (1). 144 - 153.

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Item Type:	Article
Depositing User:	Symplectic Admin
Date Deposited:	03 Sep 2019 15:43
Last Modified:	13 May 2022 04:11
DOI:	10.1016/j.ajhg.2018.06.001
Open Access URL:	https://www.sciencedirect.com/science/article/pii/...
Related URLs:	Author
URI:	https://livrepository.liverpool.ac.uk/id/eprint/3053342