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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Shawn Witham, Kyoko Takano, Charles E. Schwartz, Emil Alexov
Formatua: Artigo
Hizkuntza:ingelesa
Argitaratua: 2011
Sarrera elektronikoa:https://doi.org/10.1002/prot.23065
Etiketak: Etiketa erantsi
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!