Varaico: Literature-Extracted Genetic Variants

Gene:CDH23
Variant:p.D2028A
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CDH23

NM_022124.6:p.D2028A

Associated Papers

Identification of novel CDH23 heterozygous variants causing autosomal recessive nonsyndromic hearing loss.

Liao B et al.

Genes & Genomics, 2025

Novel Mutations in CLPP, LARS2, CDH23, and COL4A5 Identified in Familial Cases of Prelingual Hearing Loss.

Zafar S et al.

Genes, 2020

Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss.

Richard EM et al.

Human Mutation, 2019

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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."