Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.V226V
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GJB2

NM_004004.6:p.V226V

Associated Papers

Identification of new variants in MTRNR1 and MTRNR2 genes using whole mitochondrial genome sequencing in a Taiwanese family with MERRF (myoclonic epilepsy with ragged-red fibers) syndrome.

Wu YT et al.

Hearing Research, 2023

Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China.

Yuan Y et al.

Journal of Translational Medicine, 2009

Molecular etiology of hearing impairment in Inner Mongolia: mutations in SLC26A4 gene and relevant phenotype analysis.

Dai P et al.

Journal of Translational Medicine, 2008

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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."