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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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Detalles Bibliográficos
Autores principales: Choudhury, Arunabh, Mohammad, Taj, Samarth, Nikhil, Hussain, Afzal, Rehman, Md. Tabish, Islam, Asimul, Alajmi, Mohamed F., Singh, Shailza, Hassan, Md. Imtaiyaz
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8119478/
https://www.ncbi.nlm.nih.gov/pubmed/33986331
http://dx.doi.org/10.1038/s41598-021-89450-7