RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability.

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Scala, M; Mojarrad, M; Riazuddin, S; Brigatti, KW; Ammous, Z; Cohen, JS; Hosny, H; Usmani, MA; Shahzad, M; Riazuddin, S; et al. Scala, M; Mojarrad, M; Riazuddin, S; Brigatti, KW; Ammous, Z; Cohen, JS; Hosny, H; Usmani, MA; Shahzad, M; Riazuddin, S; Stanley, V; Eslahi, A; Person, RE; Elbendary, HM; Comi, AM; Poskitt, L; Salpietro, V; Genomics, QS; Rosenfeld, JA; Williams, KB; Marafi, D; Xia, F; Biderman Waberski, M; Zaki, MS; Gleeson, J; Puffenberger, E; Houlden, H; Maroofian, R (2020) RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability. Brain, 143 (4). e31. ISSN 1460-2156 https://doi.org/10.1093/brain/awaa070
SGUL Authors: Maroofian, Reza

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Item Type:

Article

Additional Information:

© The Author(s) (2020). Published by Oxford University Press on behalf of the Guarantors of Brain. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.

Keywords:

Neurology & Neurosurgery, 11 Medical and Health Sciences, 17 Psychology and Cognitive Sciences

SGUL Research Institute / Research Centre:

Academic Structure > Molecular and Clinical Sciences Research Institute (MCS)

Journal or Publication Title:

Brain

ISSN:

1460-2156

Language:

eng

Dates:

Date	Event
April 2020	Published
30 March 2020	Published Online

Publisher License:

Creative Commons: Attribution 4.0

Projects:

Project ID	Funder	Funder ID
R01NS107428	National Institute of Neurological Disorders and Stroke	http://dx.doi.org/10.13039/100000065
MR/S01165X/1	Medical Research Council	http://dx.doi.org/10.13039/501100000265
MR/S005021/1	Medical Research Council	http://dx.doi.org/10.13039/501100000265
G0601943	Medical Research Council	http://dx.doi.org/10.13039/501100000265