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Novel Compound Heterozygous Mutations in TTI2 Cause Syndromic Intellectual Disability in a Chinese Family
Telomere maintenance 2 (TELO2)–interacting protein 2 (TTI2) interacts with TTI1 and TELO2 to form the Triple T complex, which is required for various cellular processes, including the double-strand DNA break response, nonsense-mediated mRNA decay, and telomerase assembly. Herein, we identified compo...
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| Publicado no: | Front Genet |
|---|---|
| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Frontiers Media S.A.
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6830114/ https://ncbi.nlm.nih.gov/pubmed/31737043 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2019.01060 |
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