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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.
@article{oktay_y_2020_4383, author = {Oktay, Y. and Gungor, S. and Hiz, S. and Yaramis, A. and Aranguren-Ibanez, A. and Yis, U. and Sonmezler, E. and Yilmaz, E. and Ekinci, B. and Aslan, M. and Balaraju, S. and Szabo, N. and Laurie, S. and Beltran, S. and Hathazi, D. and MacArthur, D. and Roos, A. and Lochmuller, H. and Vernos, I. and Horvath, R.}, title = {{A homozygous missense variant inTUBGCP2alter the g-tubulin ring complex leading to abnormal cortical development, pontocerebellar atrophy and altered myelination}}, journal = {EUROPEAN JOURNAL OF HUMAN GENETICS}, year = 2020, volume = 28, number = {SUPPL 1}, pages = {460-461}, month = jan, }
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