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Chromothripsis and DNA Repair Disorders

25 Feb 2020

Abstract excerpt

Chromothripsis is a mutational mechanism leading to complex and relatively clustered chromosomal rearrangements, resulting in diverse phenotypic outcomes depending on the involved genomic landscapes. It may occur both in the germ and the somatic cells, resulting in congenital and developmental disorders and cancer, respectively. Asymptomatic individuals may be carriers of chromotriptic rearrangements and...

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PMID: 32106411
DOI: 10.3390/jcm9030613

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