Associated Papers
Novel Homozygous Missense Variant in GJA3 Connexin Domain Causing Congenital Nuclear and Cortical Cataracts.
Hassan AY et al.
International Journal of Molecular Sciences, 2021
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
In silico analysis of non-synonymous single nucleotide polymorphisms (nsSNPs) in the human GJA3 gene associated with congenital cataract.
Zhang M et al.
Bmc Molecular and Cell Biology, 2020
Whole-genome sequencing reveals a recurrent missense mutation in the Connexin 46 (GJA3) gene causing autosomal-dominant lamellar cataract.
Berry V et al.
Eye (london, England), 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
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
Exome sequencing of senescence-accelerated mice (SAM) reveals deleterious mutations in degenerative disease-causing genes.
Tanisawa K et al.
Bmc Genomics, 2013
23586671 (PubMed )
Supplement: 1471-2164-14-248-S1.xls › Table_S2
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