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Alternative splicing expands the clinical spectrum of ndufs6-related mitochondrial disorders

dc.contributor.authorArmirola Ricaurte, C.
dc.contributor.authorZonnekein, N.
dc.contributor.authorKoutsis, G.
dc.contributor.authorMorís de la Tassa, Germán 
dc.date.accessioned2024-10-09T06:18:18Z
dc.date.available2024-10-09T06:18:18Z
dc.date.issued2024
dc.identifier.citationGenetics in Medicine, 26(6) (2024); doi:10.1016/j.gim.2024.101117
dc.identifier.issn1098-3600
dc.identifier.urihttps://hdl.handle.net/10651/74895
dc.description.sponsorshipThe European Community’s Seventh Framework Programme (FP7/ 2007-2013) under grant agreement n◦ 2012-305121 “Integrated European –omics research project for diagnosis and therapy in rare neuromuscular and neurodegenerative diseases (NEUROMICS)” and CMMC (C18) to B.W., a CMMC clinical scientist award to M.K., the Carlos III Health Institute (ISCIII) (Grant PI21/00103 to C.E.), the European Union—European Regional Development Fund and the European Social Fund (FSE) “A way of making Europe.” This research was funded in part, by the Wellcome Trust (WT093205MA, WT104033AIA). This study makes use of data shared/provided through RDConnect, which received funding from the European Union Seventh Framework Programme (FP7/2007-2013) under grant agreement No. 305444. This project has received funding from the European Union’s Horizon 2020 research and innovation program under grant agreement No. 779257 (Solve-RD).
dc.description.statementofresponsibilityArmirola-Ricaurte C., Zonnekein N., Koutsis G., Amor-Barris S., Pelayo-Negro A.L., Atkinson D., Efthymiou S., Turchetti V., Dinopoulos A., Garcia A., Karakaya M., Moris G., Polat A.I., Yiş U., Espinos C., Van de Vondel L., De Vriendt E., Karadima G., Wirth B., Hanna M., Houlden H., Berciano J., Jordanova A.
dc.language.isoeng
dc.relation.ispartofGenetics in Medicine
dc.rights© 2024 The Authors
dc.rightsCC Reconocimiento 4.0 Internacional
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.sourceScopus
dc.source.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-85190331288&doi=10.1016%2fj.gim.2024.101117&partnerID=40&md5=faca94f6ef539e2578fe8df8bb910972
dc.titleAlternative splicing expands the clinical spectrum of ndufs6-related mitochondrial disorders
dc.typejournal article
dc.identifier.doi10.1016/j.gim.2024.101117
dc.relation.projectIDPI21/00103 
dc.relation.projectIDinfo:eu-repo/grantAgreement/EC/FP7/305121/EU 
dc.relation.projectIDinfo:eu-repo/grantAgreement/EC/H2020/779257/EU 
dc.relation.publisherversionhttp://dx.doi.org/10.1016/j.gim.2024.101117
dc.rights.accessRightsopen access
dc.type.hasVersionVoR


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