Varaico: Literature-Extracted Genetic Variants

Gene:CDH23
Variant:p.Q58*
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CDH23

NM_022124.6:p.Q58*

Associated Papers

A mouse model for nonsyndromic deafness (DFNB12) links hearing loss to defects in tip links of mechanosensory hair cells.

Schwander M et al.

Proceedings of the National Academy of Sciences of the United States of America, 2009

[Molecular genetics of Usher syndrome].

Tazetdinov AM et al.

Genetika, 2008

The responsible genes in Japanese deafness patients and clinical application using Invader assay.

Usami S et al.

Acta Oto-laryngologica, 2008

The molecular genetics of Usher syndrome.

Ahmed ZM et al.

Clinical Genetics, 2003

CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.

Astuto LM et al.

American Journal of Human Genetics, 2002

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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."