Varaico: Literature-Extracted Genetic Variants

Gene:CDH23
Variant:p.A1990A
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CDH23

NM_022124.6:p.A1990A

Associated Papers

High prevalence of CDH23 mutations in patients with congenital high-frequency sporadic or recessively inherited hearing loss.

Mizutari K et al.

Orphanet Journal of Rare Diseases, 2015

25963016 (PubMed )
Supplement: 13023_2015_276_MOESM2_ESM.xlsx › Sheet1
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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."