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Unbalanced translocations arise from diverse mutational mechanisms including chromothripsis

Unbalanced translocations are a relatively common type of copy number variation and a major contributor to neurodevelopmental disorders. We analyzed the breakpoints of 57 unique unbalanced translocations to investigate the mechanisms of how they form. Fifty-one are simple unbalanced translocations b...

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Pubblicato in:Genome Res
Autori principali: Weckselblatt, Brooke, Hermetz, Karen E., Rudd, M. Katharine
Natura: Artigo
Lingua:Inglês
Pubblicazione: Cold Spring Harbor Laboratory Press 2015
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4484391/
https://ncbi.nlm.nih.gov/pubmed/26070663
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/gr.191247.115
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