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Article

Investigating the pathogenic SNPs in BLM helicase and their biological consequences by computational approach.

Scientific reports - 23 Jul 2020

Alzahrani Faisal A, Ahmed Firoz, Sharma Monika, Rehan Mohd, Mahfuz Maryam, Baeshen Mohammed N, Hawsawi Yousef, Almatrafi Ahmed, Alsagaby Suliman Abdallah, Kamal Mohammad Azhar, Warsi Mohiuddin Khan, Choudhry Hani, Jamal Mohammad Sarwar

Abstract excerpt

The BLM helicase protein plays a vital role in DNA replication and the maintenance of genomic integrity. Variation in the BLM helicase gene resulted in defects in the DNA repair mechanism and was reported to be associated with Bloom syndrome (BS) and cancer. Despite extensive investigation of helicase proteins in humans, no attempt has previously been made to comprehensively analyse the single nucleotide...

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PMID: 32704157
DOI: 10.1038/s41598-020-69033-8
PMCID: PMC7378827

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