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Transposition of the great arteries - a phenotype associated with 16p11.2 duplications?

Genetic analyses of patients with transposition of the great arteries have identified rare copy number variations, suggesting that they may be significant to the aetiology of the disease. This paper reports the identification of a 16p11.2 microduplication, a variation that has yet to be reported in...

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Foilsithe in:World J Cardiol
Main Authors: Karunanithi, Zarmiga, Vestergaard, Else Marie, Lauridsen, Mette H
Formáid: Artigo
Teanga:Inglês
Foilsithe: Baishideng Publishing Group Inc 2017
Ábhair:
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5746628/
https://ncbi.nlm.nih.gov/pubmed/29317992
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4330/wjc.v9.i12.848
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