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Article

A novel mutation GJA8 NM_005267.5: c.124G > A, p.(E42K) causing congenital nuclear cataract.

BMC ophthalmology - 15 Apr 2022

Guo Ruru, Huang Dandan, Ji Jian, Liu Wei

Abstract excerpt

BACKGROUND: To identify the genetic mutation of a four-generation autosomal dominant congenital cataract family in China. METHODS: Targeted region sequencing containing 778 genes associated with ocular diseases was performed to screen for the potential mutation, and Sanger sequencing was used to confirm the mutation. The homology model was constructed to identify the protein structural change, several online...

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Identifiers

PMID: 35428228
DOI: 10.1186/s12886-022-02386-y
PMCID: PMC9013174

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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