Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.S19R
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GJB2

NM_004004.6:p.S19R

Associated Papers

Molecular Mechanisms and Clinical Phenotypes of GJB2 Missense Variants.

Mao L et al.

Biology, 2023

37106706 (PubMed )
Supplement: biology-12-00505-s001.zip › biology-2074814-supplementary.xlsx › Table_S1

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

Genetic etiology of non-syndromic hearing loss in Latin America.

Lezirovitz K et al.

Human Genetics, 2022

Congenital hearing loss: a literature review of the genetic etiology in a Mexican population.

Torre-González C et al.

Boletin Medico Del Hospital Infantil De Mexico, 2022

Two novel compound heterozygous families with a trimutation in the GJB2 gene causing sensorineural hearing loss.

Martínez-Saucedo M et al.

International Journal of Pediatric Otorhinolaryngology, 2015

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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."