Varaico: Literature-Extracted Genetic Variants

Gene:GJA3
Variant:p.H224R
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GJA3

NM_021954.4:p.H224R

Associated Papers

A novel GJA3 mutation causing autosomal dominant congenital perinuclear cataracts.

Zhu Y et al.

Bmc Ophthalmology, 2025

Identification of co-segregating GJA3 and CRYBA1 missense variants in a Chinese family with congenital cataract: a possible digenic etiology.

Zhou C et al.

Frontiers in Medicine, 2025

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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."