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

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    Author
    Scala, Marcello
    Mojarrad, Majid
    Riazuddin, Saima
    Brigatti, Karlla W
    Ammous, Zineb
    Cohen, Julie S
    Hosny, Heba
    Usmani, Muhammad A
    Shahzad, Mohsin
    Riazuddin, Sheikh
    Stanley, Valentina
    Eslahi, Atiye
    Person, Richard E
    Elbendary, Hasnaa M
    Comi, Anne M
    Poskitt, Laura
    Salpietro, Vincenzo
    Queen Square Genomics
    Rosenfeld, Jill A
    Williams, Katie B
    Marafi, Dana
    Xia, Fan
    Biderman Waberski, Marta
    Zaki, Maha S
    Gleeson, Joseph
    Puffenberger, Erik
    Houlden, Henry
    Maroofian, Reza
    Show allShow less

    Date
    2020-03-31
    Journal
    Brain
    Publisher
    Oxford University Press
    Type
    Article
    
    Metadata
    Show full item record
    See at
    https://doi.org/10.1093/brain/awaa070
    Keyword
    nuclear protein
    RSRC1 protein, human
    intellectual impairment
    loss of function mutation
    Genes, Recessive
    Identifier to cite or link to this item
    http://hdl.handle.net/10713/13527
    ae974a485f413a2113503eed53cd6c53
    10.1093/brain/awaa070
    Scopus Count
    Collections
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