{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["85(4)"],"submitter":["Donkervoort S"],"funding":["Intramural NIH HHS"],"journal":["Clinical genetics"],"pagination":["393-5"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC5030767"],"repository":["biostudies-literature"],"pubmed_title":["Phenotypic variability of a likely FA2H founder mutation in a family with complicated hereditary spastic paraplegia."],"pmcid":["PMC5030767"],"funding_grant_id":["Z99 NS999999","ZIA NS003129-03","ZIA NS003129-02"],"pubmed_authors":["Marks H","Zein WM","Hu Y","Blackstone C","Dastgir J","Bonnemann CG","Donkervoort S"],"additional_accession":[]},"is_claimable":false,"name":"Phenotypic variability of a likely FA2H founder mutation in a family with complicated hereditary spastic paraplegia.","description":null,"dates":{"release":"2014-01-01T00:00:00Z","publication":"2014 Apr","modification":"2025-04-26T16:25:46.961Z","creation":"2025-04-06T15:08:45.919Z"},"accession":"S-EPMC5030767","cross_references":{"pubmed":["23745665"],"doi":["10.1111/cge.12185"]}}