Article

Chromothripsis and DNA-repair Disorders

2020-01-29

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 experience...

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Literature Corpus work: edac39e2-649f-5b67-9c0e-69bc1c31ef60
DOI: 10.20944/preprints202001.0353.v1

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