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Structural genomics approach to investigate deleterious impact of nsSNPs in conserved telomere maintenance component 1
Conserved telomere maintenance component 1 (CTC1) is an important component of the CST (CTC1-STN1-TEN1) complex, involved in maintaining the stability of telomeric DNA. Several non-synonymous single-nucleotide polymorphisms (nsSNPs) in CTC1 have been reported to cause Coats plus syndrome and Dyskera...
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| Vydáno v: | Sci Rep |
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| Hlavní autoři: | , , , , , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Nature Publishing Group UK
2021
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8119478/ https://ncbi.nlm.nih.gov/pubmed/33986331 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-021-89450-7 |
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