Varaico: Literature-Extracted Genetic Variants

Gene:CIB2
Variant:p.R33*
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CIB2

NM_006383.4:p.R33*

Associated Papers

Genetic heterogeneity of congenital hearing impairment in Algerians from the Ghardaïa province.

Talbi S et al.

International Journal of Pediatric Otorhinolaryngology, 2018

Variants in CIB2 cause DFNB48 and not USH1J.

Booth KT et al.

Clinical Genetics, 2018

Advances in genetic hearing loss: CIB2 gene.

Jacoszek A et al.

European Archives of Oto-rhino-laryngology : Official Journal of the European Federation of Oto-rhino-laryngological Societies (eufos) : Affiliated With the German Society for Oto-rhino-laryngology - Head and Neck Surgery, 2017

The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands.

Zazo Seco C et al.

European Journal of Human Genetics : Ejhg, 2017

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

Seco CZ et al.

European Journal of Human Genetics : Ejhg, 2016

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."