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Sequence Statistics Reliably Predict Stabilizing Mutations in a Protein Domain

✍ Scribed by Boris Steipe; Britta Schiller; Andreas Plückthun; Stefan Steinbacher

Book ID
115626717
Publisher
Elsevier Science
Year
1994
Tongue
English
Weight
262 KB
Volume
240
Category
Article
ISSN
0022-2836

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A missense mutation in CLIC2 associated
A missense mutation in CLIC2 associated with intellectual disability is predicted by in silico modeling to affect protein stability and dynamics
✍ Shawn Witham; Kyoko Takano; Charles Schwartz; Emil Alexov 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 431 KB

## Abstract 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 report