Varaico: Literature-Extracted Genetic Variants

Gene:GJA8
Variant:p.W4R
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GJA8

NM_005267.5:p.W4R

Associated Papers

The Hydrophobic Residues in Amino Terminal Domains of Cx46 and Cx50 Are Important for Their Gap Junction Channel Ion Permeation and Gating.

Jaradat R et al.

International Journal of Molecular Sciences, 2022

Differential Domain Distribution of gnomAD- and Disease-Linked Connexin Missense Variants.

Bai D et al.

International Journal of Molecular Sciences, 2021

34360596 (PubMed )
Supplement: ijms-22-07832-s001.zip › ijms-1281081_supplemental-tables-June10-2021.pdf

New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies.

Ceroni F et al.

Human Genetics, 2019

The impact of GJA8 SNPs on susceptibility to age-related cataract.

Yu X et al.

Human Genetics, 2018

30349978 (PubMed )
Supplement: 439_2018_1945_MOESM1_ESM.docx

A Missense Mutation in GJA8 Encoding Connexin 50 in a Chinese Pedigree with Autosomal Dominant Congenital Cataract.

Zhang L et al.

The Tohoku Journal of Experimental Medicine, 2018

Identification of a Missense Mutation in GJA8 Gene in an Iranian Family with Autosomal Dominant Congenital Cataract.

Asghari M et al.

Journal of Current Ophthalmology, 0

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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."