Varaico: Literature-Extracted Genetic Variants

Gene:CDH23
Variant:p.P1206R
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CDH23

NM_022124.6:p.P1206R

Associated Papers

A CDH23 missense variant in Beauceron dogs with non-syndromic deafness.

Abitbol M et al.

Animal Genetics, 2023

GESPA: classifying nsSNPs to predict disease association.

Khurana JK et al.

Bmc Bioinformatics, 2015

26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.xls › Sheet1

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

Usami S et al.

Acta Oto-laryngologica, 2008

Development of a genotyping microarray for Usher syndrome.

Cremers FP et al.

Journal of Medical Genetics, 2007

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."