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dfnb31

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Official Full Name
deafness, autosomal recessive 31
Background
This gene is thought to function in the organization and stabilization of sterocilia elongation and actin cystoskeletal assembly, based on studies of the related mouse gene. Mutations in this gene have been associated with autosomal recessive non-syndromic deafness and Usher Syndrome. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms.
Synonyms
DFNB31; deafness, autosomal recessive 31; whirlin; CIP98; USH2D; WHRN; 1110035G07Rik; Autosomal recessive deafness type 31 protein; CASK interacting protein CIP98; CIP 98; Deafness autosomal recessive 31; DFNB 31; DKFZp434N014; KIAA1526; RP11 9M16.1; USH 2D; WHRN_HUMAN; WI; OTTHUMP00000021976; OTTHUMP00000021977; OTTHUMP00000021978; CASK-interacting protein CIP98; RP11-9M16.1

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