Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.V198_G200Fs
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GJB2

NM_004004.6:p.V198_G200Fs

Associated Papers

Simulation-predicted and -explained inheritance model of pathogenicity confirmed by transgenic mice models.

Tsai CY et al.

Computational and Structural Biotechnology Journal, 2023

38074473 (PubMed )
Supplement: mmc1.docx

Non-Syndromic Hearing Loss in a Romanian Population: Carrier Status and Frequent Variants in the GJB2 Gene.

Riza AL et al.

Genes, 2022

36672810 (PubMed )
Supplement: genes-14-00069-s001.zip › genes-2004703-supplementary.pdf

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

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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."