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Investigation of deleterious effects of nsSNPs in the POT1 gene: a structural genomics‐based approach to understand the mechanism of cancer development

16 Dec 2018

Abstract excerpt

Protection of telomere 1 (POT1) is one of the key components of shelterin complex, implicated in maintaining the telomere homeostasis, and thus stability of the eukaryotic genome. A large number of non-synonymous single nucleotide polymorphisms (nsSNPs) in the POT1 gene have been reported to cause varieties of human diseases, including cancer. In recent years, a number of mutations in POT1 has been markedly...

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PMID: 30556179
DOI: 10.1002/jcb.28312

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