A missense mutation in <i>CLIC2</i> associated with intellectual disability is predicted by <i>in silico</i> 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: | , , , |
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| Médium: | Artigo |
| Jazyk: | angličtina |
| Vydáno: |
2011
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| On-line přístup: | https://doi.org/10.1002/prot.23065 |
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