A homozygous missense variant inTUBGCP2alter the g-tubulin ring complex leading to abnormal cortical development, pontocerebellar atrophy and altered myelination

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dc.authoridBeltran, Sergi/0000-0002-2810-3445;
dc.authorwosidBeltran, Sergi/I-3408-2015
dc.authorwosidVernos, Isabelle/C-1687-2015
dc.authorwosidOktay, Yavuz/G-4794-2015
dc.contributor.authorOktay, Y.
dc.contributor.authorGungor, S.
dc.contributor.authorHiz, S.
dc.contributor.authorYaramis, A.
dc.contributor.authorAranguren-Ibanez, A.
dc.contributor.authorYis, U.
dc.contributor.authorSonmezler, E.
dc.date.accessioned2024-08-04T20:56:17Z
dc.date.available2024-08-04T20:56:17Z
dc.date.issued2020
dc.departmentİnönü Üniversitesien_US
dc.description.abstract[Abstract Not Available]en_US
dc.description.sponsorshipTUBITAK [216S771]; Newton Fund (UK/Turkey) [MR/N027302/1]; AFM [21644]en_US
dc.description.sponsorshipTUBITAK research grant 216S771, Newton Fund (UK/Turkey, MR/N027302/1), AFM #21644.en_US
dc.identifier.endpage461en_US
dc.identifier.issn1018-4813
dc.identifier.issn1476-5438
dc.identifier.issueSUPPL 1en_US
dc.identifier.startpage460en_US
dc.identifier.urihttps://hdl.handle.net/11616/102192
dc.identifier.volume28en_US
dc.identifier.wosWOS:000598482601409en_US
dc.identifier.wosqualityQ2en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.language.isoenen_US
dc.publisherSpringernatureen_US
dc.relation.ispartofEuropean Journal of Human Geneticsen_US
dc.relation.publicationcategoryKonferans Öğesi - Uluslararası - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subject[No Keywords]en_US
dc.titleA homozygous missense variant inTUBGCP2alter the g-tubulin ring complex leading to abnormal cortical development, pontocerebellar atrophy and altered myelinationen_US
dc.typeConference Objecten_US

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