Varaico: Literature-Extracted Genetic Variants

Gene:CDH23
Variant:p.S70P
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CDH23

NM_022124.6:p.S70P

Associated Papers

Phenotypic differences in the inner ears of CBA/CaJ and C57BL/6J mice carrying missense and single base pair deletion mutations in the Cdh23 gene.

Zhao T et al.

Journal of Neuroscience Research, 2021

Monogenic mutations associated with IgA deficiency.

Abolhassani H et al.

Expert Review of Clinical Immunology, 2016

ER stress inhibitor attenuates hearing loss and hair cell death in Cdh23erl/erl mutant mice.

Hu J et al.

Cell Death & Disease, 2016

Compound heterozygosity of the functionally null Cdh23(v-ngt) and hypomorphic Cdh23(ahl) alleles leads to early-onset progressive hearing loss in mice.

Miyasaka Y et al.

Experimental Animals, 2013

A mutation in the cdh23 gene causes age-related hearing loss in Cdh23(nmf308/nmf308) mice.

Liu S et al.

Gene, 2012

A new mouse mutant of the Cdh23 gene with early-onset hearing loss facilitates evaluation of otoprotection drugs.

Han F et al.

The Pharmacogenomics Journal, 2012

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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."