A homozygous missense variant inTUBGCP2alter the g-tubulin ring complex

Oktay, Y; Gungor, S; Hiz, S; Yaramis, A; Aranguren-Ibanez, A; Yis, U; Sonmezler, E; Yilmaz, E; Ekinci, B; Aslan, M; Balaraju, S; Szabo, N; Laurie, S; Beltran, S; Hathazi, D; MacArthur, D; Roos, A; Lochmuller, H; Vernos, I; Horvath, R

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A homozygous missense variant inTUBGCP2alter the g-tubulin ring complex

Title: 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; Yilmaz, E; Ekinci, B; Aslan, M; Balaraju, S; Szabo, N; Laurie, S; Beltran, S; Hathazi, D; MacArthur, D; Roos, A; Lochmuller, H; Vernos, I; Horvath, R

URI: http://hdl.handle.net/11616/75643

Date: 2020

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