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

dc.contributor.authorScala, Marcello
dc.contributor.authorMojarrad, Majid
dc.contributor.authorRiazuddin, Saima
dc.contributor.authorBrigatti, Karlla W
dc.contributor.authorAmmous, Zineb
dc.contributor.authorCohen, Julie S
dc.contributor.authorHosny, Heba
dc.contributor.authorUsmani, Muhammad A
dc.contributor.authorShahzad, Mohsin
dc.contributor.authorRiazuddin, Sheikh
dc.contributor.authorStanley, Valentina
dc.contributor.authorEslahi, Atiye
dc.contributor.authorPerson, Richard E
dc.contributor.authorElbendary, Hasnaa M
dc.contributor.authorComi, Anne M
dc.contributor.authorPoskitt, Laura
dc.contributor.authorSalpietro, Vincenzo
dc.contributor.authorQueen Square Genomicsen_US
dc.contributor.authorRosenfeld, Jill Aen_US
dc.contributor.authorWilliams, Katie Ben_US
dc.contributor.authorMarafi, Danaen_US
dc.contributor.authorXia, Fanen_US
dc.contributor.authorBiderman Waberski, Martaen_US
dc.contributor.authorZaki, Maha Sen_US
dc.contributor.authorGleeson, Josephen_US
dc.contributor.authorPuffenberger, Eriken_US
dc.contributor.authorHoulden, Henryen_US
dc.contributor.authorMaroofian, Rezaen_US
dc.date.accessioned2020-08-12T18:41:15Z
dc.date.available2020-08-12T18:41:15Z
dc.date.issued2020-03-31
dc.identifier.urihttp://hdl.handle.net/10713/13527
dc.description.urihttps://doi.org/10.1093/brain/awaa070en_US
dc.language.isoen_USen_US
dc.publisherOxford University Pressen_US
dc.relation.ispartofBrainen_US
dc.subjectnuclear proteinen_US
dc.subjectRSRC1 protein, humanen_US
dc.subjectintellectual impairmenten_US
dc.subjectloss of function mutationen_US
dc.subject.meshGenes, Recessiveen_US
dc.titleRSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability.en_US
dc.typeArticleen_US
dc.identifier.doi10.1093/brain/awaa070
dc.identifier.pmid32227164
dc.source.volume143
dc.source.issue4
dc.source.beginpagee31
dc.source.endpage
dc.source.countryUnited States
dc.source.countryUnited Kingdom
dc.source.countryUnited Kingdom
dc.source.countryUnited Kingdom
dc.source.countryEngland


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