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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.


Dublin Core

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  <dc:creator>Oktay, Y.</dc:creator>
  <dc:creator>Gungor, S.</dc:creator>
  <dc:creator>Hiz, S.</dc:creator>
  <dc:creator>Yaramis, A.</dc:creator>
  <dc:creator>Aranguren-Ibanez, A.</dc:creator>
  <dc:creator>Yis, U.</dc:creator>
  <dc:creator>Sonmezler, E.</dc:creator>
  <dc:creator>Yilmaz, E.</dc:creator>
  <dc:creator>Ekinci, B.</dc:creator>
  <dc:creator>Aslan, M.</dc:creator>
  <dc:creator>Balaraju, S.</dc:creator>
  <dc:creator>Szabo, N.</dc:creator>
  <dc:creator>Laurie, S.</dc:creator>
  <dc:creator>Beltran, S.</dc:creator>
  <dc:creator>Hathazi, D.</dc:creator>
  <dc:creator>MacArthur, D.</dc:creator>
  <dc:creator>Roos, A.</dc:creator>
  <dc:creator>Lochmuller, H.</dc:creator>
  <dc:creator>Vernos, I.</dc:creator>
  <dc:creator>Horvath, R.</dc:creator>
  <dc:date>2020-01-01</dc:date>
  <dc:description>Öz bulunamadı.</dc:description>
  <dc:identifier>https://aperta.ulakbim.gov.trrecord/4383</dc:identifier>
  <dc:identifier>oai:zenodo.org:4383</dc:identifier>
  <dc:rights>info:eu-repo/semantics/openAccess</dc:rights>
  <dc:rights>http://www.opendefinition.org/licenses/cc-by</dc:rights>
  <dc:source>EUROPEAN JOURNAL OF HUMAN GENETICS 28(SUPPL 1) 460-461</dc:source>
  <dc:title>A homozygous missense variant inTUBGCP2alter the g-tubulin ring complex leading to abnormal cortical development, pontocerebellar atrophy and altered myelination</dc:title>
  <dc:type>info:eu-repo/semantics/article</dc:type>
  <dc:type>publication-article</dc:type>
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