biostudies-literatureUnknown143(4)Scala MNational Institute of Neurological Disorders and StrokeBrain Research UKMultiple System Atrophy TrustMedical Research CouncilUniversity of MarylandThe National Institute for Health Research University College London Hospitals Biomedical Research CentreNINDS NIH HHSSparks Great Ormond Street Hospital Charity, Muscular DystrophyWellcome TrustNINDSMuscular Dystrophy AssociationBrain : a journal of neurologye31https://www.ebi.ac.uk/biostudies/studies/S-EPMC7174030biostudies-literatureRSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability.PMC7174030MR/S01165X/1R01 NS107428G0601943104033/Z/14/ZR01NS107428MR/S005021/1Brigatti KWAmmous ZRosenfeld JAGleeson JZaki MSMarafi DScala MMaroofian RRiazuddin SElbendary HMBiderman Waberski MEslahi AWilliams KBGenomics QSXia FHoulden HStanley VSalpietro VUsmani MAHosny HShahzad MMojarrad MPerson RECohen JSPoskitt LPuffenberger EComi AMfalseRSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability.2020-01-01T00:00:00Z2020 Apr2026-05-04T20:57:07.391Z2025-04-05T22:57:37.043ZS-EPMC71740303222716410.1093/brain/awaa070