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Mechanisms underlying structural variant formation in genomic disorders

With the recent burst of technological developments in genomics, and the clinical implementation of genome-wide assays, our understanding of the molecular basis of genomic disorders, specifically the contribution of structural variation to disease burden, is evolving quickly. Ongoing studies have re...

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Bibliografiske detaljer
Udgivet i:Nat Rev Genet
Main Authors: Carvalho, Claudia M. B., Lupski, James R.
Format: Artigo
Sprog:Inglês
Udgivet: 2016
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4827625/
https://ncbi.nlm.nih.gov/pubmed/26924765
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/nrg.2015.25
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