Calcium and integrin-binding family member 2
Definition:
References:
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[1]. Saima Riazuddin, et al. Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48. Nat Genet. 2012 Nov;44(11):1265-71. [Content Brief]
[2]. Kunjan Patel, et al. A Novel C-Terminal CIB2 (Calcium and Integrin Binding Protein 2) Mutation Associated with Non-Syndromic Hearing Loss in a Hispanic Family. PLoS One. 2015 Oct 1;10(10):e0133082. [Content Brief]
[3]. Celia Zazo Seco, et al. Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells. Eur J Hum Genet. 2016 Apr;24(4):542-9. [Content Brief]