Article
A comprehensive in silico investigation into the pathogenic SNPs in the RTEL1 gene and their biological consequences.
PloS one - 1 Jan 2024
Tanshee Rifah Rownak, Mahmud Zimam, Nabi A H M Nurun, Sayem Mohammad
Abstract excerpt
The Regulator of Telomere Helicase 1 (RTEL1) gene encodes a critical DNA helicase intricately involved in the maintenance of telomeric structures and the preservation of genomic stability. Germline mutations in the RTEL1 gene have been clinically associated with Hoyeraal-Hreidarsson syndrome, a more severe version of Dyskeratosis Congenita. Although various research has sought to link RTEL1 mutations to specific...
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