Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.R216fs
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GJB2

NM_004004.6:p.R216fs

Associated Papers

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

Disparities in discovery of pathogenic variants for autosomal recessive non-syndromic hearing impairment by ancestry.

Chakchouk I et al.

European Journal of Human Genetics : Ejhg, 2019

Identification of Main Genetic Causes Responsible for Non-Syndromic Hearing Loss in a Peruvian Population.

Figueroa-Ildefonso E et al.

Genes, 2019

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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."