Varaico: Literature-Extracted Genetic Variants

Gene:CDH23
Variant:p.E96V
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CDH23

NM_022124.6:p.E96V

Associated Papers

Comprehensive genetic profiling of sensorineural hearing loss using an integrative diagnostic approach.

Lee SY et al.

Cell Reports. Medicine, 2025

40592345 (PubMed )
Supplement: mmc2.xlsx › Table_S2

Improving genetic diagnosis by disease-specific, ACMG/AMP variant interpretation guidelines for hearing loss.

Kim SY et al.

Scientific Reports, 2022

35864128 (PubMed )
Supplement: 41598_2022_16661_MOESM1_ESM.xlsx › variant_list

Powerful use of automated prioritization of candidate variants in genetic hearing loss with extreme etiologic heterogeneity.

Kim SY et al.

Scientific Reports, 2021

34593925 (PubMed )
Supplement: 41598_2021_99007_MOESM1_ESM.xlsx › Table_S1
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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."