Varaico: Literature-Extracted Genetic Variants

Gene:CDH23
Variant:p.T208_D209Splc
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CDH23

NM_022124.6:p.T208_D209Splc

Associated Papers

Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.

Ayoub C et al.

Human Genomics, 2025

41430327 (PubMed )
Supplement: 40246_2025_891_MOESM1_ESM.xlsx › Supplementary_Table_S2.

Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss.

Liu S et al.

Genome Medicine, 2023

38111038 (PubMed )
Supplement: 13073_2023_1271_MOESM1_ESM.xlsx › Table_S6

Genetic etiology study of four Chinese families with two nonsyndromic deaf children in succession by targeted next-generation sequencing.

Xiao C et al.

Molecular Genetics & Genomic Medicine, 2021

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

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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."