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Regulatory variation in a TBX5 enhancer leads to isolated congenital heart disease

Recent studies have identified the genetic underpinnings of a growing number of diseases through targeted exome sequencing. However, this strategy ignores the large component of the genome that does not code for proteins, but is nonetheless biologically functional. To address the possible involvemen...

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Bibliografiske detaljer
Main Authors: Smemo, Scott, Campos, Luciene C., Moskowitz, Ivan P., Krieger, José E., Pereira, Alexandre C., Nobrega, Marcelo A.
Format: Artigo
Sprog:Inglês
Udgivet: Oxford University Press 2012
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3384386/
https://ncbi.nlm.nih.gov/pubmed/22543974
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/dds165
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