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Article

Structural genomics approach to investigate deleterious impact of nsSNPs in conserved telomere maintenance component 1.

Scientific reports - 13 May 2021

Choudhury Arunabh, Mohammad Taj, Samarth Nikhil, Hussain Afzal, Rehman Md Tabish, Islam Asimul, Alajmi Mohamed F, Singh Shailza, Hassan Md Imtaiyaz

Abstract excerpt

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 Dyskeratosis congenital diseases. Here, we have performed sequence and structure analyses of nsSNPs of CTC1 using...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33986331
DOI: 10.1038/s41598-021-89450-7
PMCID: PMC8119478

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