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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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Detalles Bibliográficos
Autores principales: Weckselblatt, Brooke, Hermetz, Karen E., Rudd, M. Katharine
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4484391/
https://www.ncbi.nlm.nih.gov/pubmed/26070663
http://dx.doi.org/10.1101/gr.191247.115