Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.D159Y
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GJB2

NM_004004.6:p.D159Y

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

Genetics Landscape of Nonsyndromic Hearing Loss in Indian Populations.

Ray M et al.

Journal of Pediatric Genetics, 2022

Functional Evaluation of a Rare Variant c.516G>C (p.Trp172Cys) in the GJB2 (Connexin 26) Gene Associated with Nonsyndromic Hearing Loss.

Maslova EA et al.

Biomolecules, 2021

33466560 (PubMed )
Supplement: biomolecules-11-00061-s001.pdf

Bioinformatic Analysis of GJB2 Gene Missense Mutations.

Yilmaz A

Cell Biochemistry and Biophysics, 2015

Functional consequences of novel connexin 26 mutations associated with hereditary hearing loss.

Mani RS et al.

European Journal of Human Genetics : Ejhg, 2009

Ethnicity and mutations in GJB2 (connexin 26) and GJB6 (connexin 30) in a multi-cultural Canadian paediatric Cochlear Implant Program.

Propst EJ et al.

International Journal of Pediatric Otorhinolaryngology, 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."