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The contribution of GTF2I haploinsufficiency to Williams syndrome

Williams syndrome (WS) is a neurodevelopmental disorder involving hemideletion of as many as 26–28 genes, resulting in a constellation of unique physical, cognitive and behavior phenotypes. The haploinsufficiency effect of each gene has been studied and correlated with phenotype(s) using several mod...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Veröffentlicht in:Mol Cell Probes
Hauptverfasser: Chailangkarn, Thanathom, Noree, Chalongrat, Muotri, Alysson R.
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2018
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6034994/
https://ncbi.nlm.nih.gov/pubmed/29305905
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.mcp.2017.12.005
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