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Article

In silico analysis of non-synonymous single nucleotide polymorphisms (nsSNPs) in the human GJA3 gene associated with congenital cataract.

BMC molecular and cell biology - 6 Mar 2020

Zhang Mingzhou, Huang Chen, Wang Zhenyu, Lv Huibin, Li Xuemin

Abstract excerpt

BACKGROUND: Gap junction protein alpha 3 (GJA3), an important pathogenic gene of congenital cataracts, encodes the transmembrane protein connexin46, which functions as an intercellular channel for voltage and chemical gating by forming dodecamers. This study systematically collected nsSNP information for the GJA3 gene from SNP databases and literature and screened for nsSNPs with high risks of pathogenicity....

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Identifiers

PMID: 32143568
DOI: 10.1186/s12860-020-00252-7
PMCID: PMC7060521

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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