RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability.
Author
Scala, MarcelloMojarrad, 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
Date
2020-03-31Journal
BrainPublisher
Oxford University PressType
Article
Metadata
Show full item recordKeyword
nuclear proteinRSRC1 protein, human
intellectual impairment
loss of function mutation
Genes, Recessive
Identifier to cite or link to this item
http://hdl.handle.net/10713/13527ae974a485f413a2113503eed53cd6c53
10.1093/brain/awaa070
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