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A Missense Mutation in CLIC2 Associated with Intellectual Disability is Predicted by In Silico Modeling to Affect Protein Stability and Dynamics

Large-scale next generation resequencing of X chromosome genes identified a missense mutation in the CLIC2 gene on Xq28 in a male with X-linked intellectual disability (XLID) and not found in healthy individuals. At the same time, numerous nsSNPs (nonsynonomous SNP) have been reported in the CLIC2 g...

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Hlavní autoři: Witham, Shawn, Takano, Kyoko, Schwartz, Charles, Alexov, Emil
Médium: Artigo
Jazyk:Inglês
Vydáno: 2011
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3132293/
https://ncbi.nlm.nih.gov/pubmed/21630357
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/prot.23065
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