Varaico: Literature-Extracted Genetic Variants

Gene:GJA3
Variant:p.E42K
Back to variants list

GJA3

NM_021954.4:p.E42K

Associated Papers

Delineation of Novel Autosomal Recessive Mutation in GJA3 and Autosomal Dominant Mutations in GJA8 in Pakistani Congenital Cataract Families.

Micheal S et al.

Genes, 2018

Identification of a novel GJA3 mutation in congenital nuclear cataract.

Yuan L et al.

Optometry and Vision Science : Official Publication of the American Academy of Optometry, 2015

Molecular genetics of congenital nuclear cataract.

Deng H et al.

European Journal of Medical Genetics, 2014

Neurological manifestations of oculodentodigital dysplasia: a Cx43 channelopathy of the central nervous system?

De Bock M et al.

Frontiers in Pharmacology, 2013

Identification of a GJA3 mutation in a Chinese family with congenital nuclear cataract using exome sequencing.

Guo Y et al.

Indian Journal of Biochemistry & Biophysics, 2013

A recurrent missense mutation in GJA3 associated with autosomal dominant cataract linked to chromosome 13q.

Bennett TM et al.

Molecular Vision, 2011

Molecular analysis of cataract families in India: new mutations in the CRYBB2 and GJA3 genes and rare polymorphisms.

Santhiya ST et al.

Molecular Vision, 2010

New genetic model rat for congenital cataracts due to a connexin 46 (Gja3 ) mutation.

Yoshida M et al.

Pathology International, 2005

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."