Varaico: Literature-Extracted Genetic Variants

Gene:CDH23
Variant:p.Q1210*
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CDH23

NM_022124.6:p.Q1210*

Associated Papers

A Novel Biallelic Variant in CDH23 Gene in a Family with Atypical USH1D Manifestation: A Literature Review and Investigation of Genotype-Phenotype Correlation.

Khorram E et al.

Audiology & Neuro-otology, 2023

CDH23 Related Hearing Loss: A New Genetic Risk Factor for Semicircular Canal Dehiscence?

Noonan KY et al.

Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2016

Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort.

Bademci G et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016

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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."