Condition: DEAFNESS, AUTOSOMAL RECESSIVE 48


rs370359511 in CIB2 gene and DEAFNESS, AUTOSOMAL RECESSIVE 48 PMID 23023331 2012 Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.

PMID 26173970 2016 Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells.

PMID 26426422 2015 A Novel C-Terminal CIB2 (Calcium and Integrin Binding Protein 2) Mutation Associated with Non-Syndromic Hearing Loss in a Hispanic Family.