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A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific reports - 12 Jul 2021

Magraner-Pardo Lorena, Laskowski Roman A, Pons Tirso, Thornton Janet M

Abstract excerpt

DNA-Damage Response (DDR) proteins are crucial for maintaining the integrity of the genome by identifying and repairing errors in DNA. Variants affecting their function can have severe consequences since failure to repair damaged DNA can result in cells turning cancerous. Here, we compare germline and somatic variants in DDR genes, specifically looking at their locations in the corresponding three-dimensional...

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Identifiers

PMID: 34253785
DOI: 10.1038/s41598-021-93715-6
PMCID: PMC8275599

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