Varaico: Literature-Extracted Genetic Variants

Gene:CDH23
Variant:p.G1975Splc
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CDH23

NM_022124.6:p.G1975Splc

Associated Papers

Is it Usher syndrome? Collaborative diagnosis and molecular genetics of patients with visual impairment and hearing loss.

Stiff HA et al.

Ophthalmic Genetics, 2020

Aberrant Splicing Events Associated to CDH23 Noncanonical Splice Site Mutations in a Proband with Atypical Usher Syndrome 1.

Valero R et al.

Genes, 2019

Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss.

Sloan-Heggen CM et al.

Human Genetics, 2016

26969326 (PubMed )
Supplement: 439_2016_1648_MOESM1_ESM.pdf
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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."