Structural variants caused by Alu insertions are associated with risks for many human diseases

Interspersed repeat sequences comprise much of our DNA, although their functional effects are poorly understood. The most commonly occurring repeat is the Alu short interspersed element. New Alu insertions occur in human populations, and have been responsible for several instances of genetic disease...

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Bibliographic Details
Published in:Proc Natl Acad Sci U S A
Main Authors: Payer, Lindsay M., Steranka, Jared P., Yang, Wan Rou, Kryatova, Maria, Medabalimi, Sibyl, Ardeljan, Daniel, Liu, Chunhong, Boeke, Jef D., Avramopoulos, Dimitri, Burns, Kathleen H.
Format: Artigo
Language:Inglês
Published: National Academy of Sciences 2017
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PNAS Plus
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC5441760/
https://ncbi.nlm.nih.gov/pubmed/28465436
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1704117114
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