Varaico: Literature-Extracted Genetic Variants

Gene:CDH23
Variant:p.E96_T97Splc
Back to variants list

CDH23

NM_022124.6:p.E96_T97Splc

Associated Papers

The p.P240L variant of CDH23 and the risk of nonsyndromic hearing loss: a meta-analysis.

Xu T 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, 2019

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

Usami S et al.

Acta Oto-laryngologica, 2008

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."