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A homozygous missense variant inTUBGCP2alter the g-tubulin ring complex

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dc.contributor.author Oktay, Y
dc.contributor.author Gungor, S
dc.contributor.author Hiz, S
dc.contributor.author Yaramis, A
dc.contributor.author Aranguren-Ibanez, A
dc.contributor.author Yis, U
dc.contributor.author Sonmezler, E
dc.contributor.author Yilmaz, E
dc.contributor.author Ekinci, B
dc.contributor.author Aslan, M
dc.contributor.author Balaraju, S
dc.contributor.author Szabo, N
dc.contributor.author Laurie, S
dc.contributor.author Beltran, S
dc.contributor.author Hathazi, D
dc.contributor.author MacArthur, D
dc.contributor.author Roos, A
dc.contributor.author Lochmuller, H
dc.contributor.author Vernos, I
dc.contributor.author Horvath, R
dc.date.accessioned 2022-10-11T13:13:23Z
dc.date.available 2022-10-11T13:13:23Z
dc.date.issued 2020
dc.identifier.uri http://hdl.handle.net/11616/75643
dc.source EUROPEAN JOURNAL OF HUMAN GENETICS
dc.title A homozygous missense variant inTUBGCP2alter the g-tubulin ring complex
dc.title leading to abnormal cortical development, pontocerebellar atrophy and
dc.title altered myelination


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