Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing.


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Lardelli R., Schaffer A., Eggens V., Zaki M., Grainger S., Sathe S., ...More

Nature genetics, vol.49, pp.457-464, 2017 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 49
  • Publication Date: 2017
  • Doi Number: 10.1038/ng.3762
  • Journal Name: Nature genetics
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.457-464
  • Erciyes University Affiliated: Yes