Seco, Celia Zazo <br/><br/>
Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells.  [electronic resource] 

 -  European journal of human genetics : EJHG  Apr 2016 
 - 542-9 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1476-5438 
<br/><br/><label>Standard No.: </label>10.1038/ejhg.2015.157  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Adult<br/>Animals<br/>COS Cells<br/>Calcium--metabolism<br/>Calcium-Binding Proteins--genetics<br/>Child<br/>Chlorocebus aethiops<br/>Deafness--genetics<br/>Female<br/>Hair Cells, Auditory--metabolism<br/>Humans<br/>Integrin alpha2beta1--metabolism<br/>Male<br/>Mutation, Missense<br/>Pedigree<br/>Protein Binding