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

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

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

• 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
• Open Archive Collection: AVESIS Open Access Collection
• Erciyes University Affiliated: Yes