Varaico: Literature-Extracted Genetic Variants

Gene:CDH23
Variant:p.E247K
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CDH23

NM_022124.6:p.E247K

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

Identification of four novel variants in the CDH23 gene from four affected families with hearing loss.

Kang B et al.

Frontiers in Genetics, 2022

Novel compound heterozygous CDH23 variants in a patient with Usher syndrome type I.

Okano S et al.

Human Genome Variation, 2019

GESPA: classifying nsSNPs to predict disease association.

Khurana JK et al.

Bmc Bioinformatics, 2015

26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.xls › Sheet1
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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."