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A novel missense mutation in CACNA1A evaluated by in silico protein modeling is associated with non-episodic spinocerebellar ataxia with slow progression

✍ Scribed by Bürk, Katrin; Kaiser, Frank J.; Tennstedt, Stephanie; Schöls, Ludger; Kreuz, Friedmar R.; Wieland, Thomas; Strom, Tim M.; Büttner, Thomas; Hollstein, Ronja; Braunholz, Diana; Plaschke, Jens; Gillessen-Kaesbach, Gabriele; Zühlke, Christine

Book ID: 122284412
Publisher: Elsevier Science
Year: 2014
Tongue: English
Weight: 552 KB
Volume: 57
Category: Article
ISSN: 1769-7212
DOI: 10.1016/j.ejmg.2014.01.005

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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