{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["144(3)"],"submitter":["Belle K"],"funding":["NIH National Institute of General Medical Sciences","National Eye Institute","NEI NIH HHS","Research to Prevent Blindness","NHLBI NIH HHS","United Mitochondrial Disease Foundation","Wellcome Trust Centre for Mitochondrial Research","National Heart Lung and Blood Institute","Wellcome Trust","NIH HHS"],"journal":["Molecular genetics and metabolism"],"pagination":["109049"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12102776"],"repository":["biostudies-literature"],"pubmed_title":["Genetic analysis and multimodal imaging confirm m.12148 T > C mitochondrial variant pathogenicity leading to multisystem dysfunction."],"pmcid":["PMC12102776"],"funding_grant_id":["P01 HL141084","R33 HL167258","R01 HL130840","S10 OD030264","P30EY026877","208148","203105/Z/16/Z","P30 EY026877"],"pubmed_authors":["Nasir J","Koeberl D","Wood EH","Karakikes I","Schaefer AM","Young JL","Randhawa S","Belle K","Caicedo J","Muscat SP","Taylor RW","Lee RT","Mercola M","Wong M","Kreymerman A","Enns GM","Vadgama N","Gifford CA","Ji MH"],"additional_accession":[]},"is_claimable":false,"name":"Genetic analysis and multimodal imaging confirm m.12148 T > C mitochondrial variant pathogenicity leading to multisystem dysfunction.","description":null,"dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Mar","modification":"2026-07-16T23:09:18.495Z","creation":"2026-07-12T03:11:08.675Z"},"accession":"S-EPMC12102776","cross_references":{"pubmed":["39986240"],"doi":["10.1016/j.ymgme.2025.109049"]}}