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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.

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Yayınlanma tarihi:
01/01/2020
Yayınlandığı yer:
EUROPEAN JOURNAL OF HUMAN GENETICS: 28 pp. 460-461.
Lisans:
Creative Commons Attribution

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