Varaico: Literature-Extracted Genetic Variants

Gene:GJB3
Variant:p.F83L
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GJB3

NM_024009.3:p.F83L

Associated Papers

DNA sequence analysis of GJB2, encoding connexin 26: observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controls.

Tang HY et al.

American Journal of Medical Genetics. Part A, 2006

Loss-of-function and residual channel activity of connexin26 mutations associated with non-syndromic deafness.

Bruzzone R et al.

Febs Letters, 2003

Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins.

Rabionet R et al.

Human Mutation, 2000

Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing.

Wu BL et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0

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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."