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

Oktay, Y.Gungor, S.Hiz, S.Yaramis, A.Aranguren-Ibanez, A.Yis, U.Sonmezler, E.2024-08-042024-08-0420201018-48131476-5438https://hdl.handle.net/11616/102192[Abstract Not Available]eninfo:eu-repo/semantics/closedAccess[No Keywords]A homozygous missense variant inTUBGCP2alter the g-tubulin ring complex leading to abnormal cortical development, pontocerebellar atrophy and altered myelinationConference Object28SUPPL 1460461WOS:000598482601409Q2