{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["143(4)"],"submitter":["Scala M"],"funding":["National Institute of Neurological Disorders and Stroke","Brain Research UK","Multiple System Atrophy Trust","Medical Research Council","University of Maryland","The National Institute for Health Research University College London Hospitals Biomedical Research Centre","NINDS NIH HHS","Sparks Great Ormond Street Hospital Charity, Muscular Dystrophy","Wellcome Trust","NINDS","Muscular Dystrophy Association"],"journal":["Brain : a journal of neurology"],"pagination":["e31"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC7174030"],"repository":["biostudies-literature"],"pubmed_title":["RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability."],"pmcid":["PMC7174030"],"funding_grant_id":["MR/S01165X/1","R01 NS107428","G0601943","104033/Z/14/Z","R01NS107428","MR/S005021/1"],"pubmed_authors":["Brigatti KW","Ammous Z","Rosenfeld JA","Gleeson J","Zaki MS","Marafi D","Scala M","Maroofian R","Riazuddin S","Elbendary HM","Biderman Waberski M","Eslahi A","Williams KB","Genomics QS","Xia F","Houlden H","Stanley V","Salpietro V","Usmani MA","Hosny H","Shahzad M","Mojarrad M","Person RE","Cohen JS","Poskitt L","Puffenberger E","Comi AM"],"additional_accession":[]},"is_claimable":false,"name":"RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability.","description":null,"dates":{"release":"2020-01-01T00:00:00Z","publication":"2020 Apr","modification":"2026-05-04T20:57:07.391Z","creation":"2025-04-05T22:57:37.043Z"},"accession":"S-EPMC7174030","cross_references":{"pubmed":["32227164"],"doi":["10.1093/brain/awaa070"]}}