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Biallelic missense variants in C2orf69 cause mitochondrial dysfunction associated with early-onset neurodegeneration and autoinflammation

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dc.contributor.coauthorOh, R.
dc.contributor.coauthorMaier, M.
dc.contributor.coauthorBlaser, S.
dc.contributor.coauthorCameron, J.
dc.contributor.coauthorLafreniere, A.
dc.contributor.coauthorHawkins, C.
dc.contributor.coauthorYoon, G.
dc.contributor.departmentSchool of Medicine
dc.contributor.kuauthorReversade, Bruno
dc.contributor.schoolcollegeinstituteSCHOOL OF MEDICINE
dc.date.accessioned2025-03-06T20:59:45Z
dc.date.issued2024
dc.description.indexedbyWOS
dc.description.publisherscopeInternational
dc.description.sponsoredbyTubitakEuN/A
dc.identifier.doi10.1016/j.nmd.2024.07.715
dc.identifier.eissn1873-2364
dc.identifier.issn0960-8966
dc.identifier.issueSupp 1
dc.identifier.quartileQ2
dc.identifier.urihttps://doi.org/10.1016/j.nmd.2024.07.715
dc.identifier.urihttps://hdl.handle.net/20.500.14288/27756
dc.identifier.volume43
dc.identifier.wos1330908100707
dc.keywordsC2orf69
dc.keywordsBiallelic missense variants
dc.keywordsMitochondrial dysfunction
dc.keywordsEarly-onset neurodegeneration
dc.language.isoeng
dc.publisherPergamon-Elsevier Science
dc.relation.ispartofNeuromuscular Disorders
dc.subjectClinical neurology
dc.subjectNeurosciences
dc.titleBiallelic missense variants in C2orf69 cause mitochondrial dysfunction associated with early-onset neurodegeneration and autoinflammation
dc.typeMeeting Abstract
dspace.entity.typePublication
local.contributor.kuauthorReversade, Bruno
local.publication.orgunit1SCHOOL OF MEDICINE
local.publication.orgunit2School of Medicine
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relation.isOrgUnitOfPublication.latestForDiscoveryd02929e1-2a70-44f0-ae17-7819f587bedd
relation.isParentOrgUnitOfPublication17f2dc8e-6e54-4fa8-b5e0-d6415123a93e
relation.isParentOrgUnitOfPublication.latestForDiscovery17f2dc8e-6e54-4fa8-b5e0-d6415123a93e

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