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G60S). This missense mutation was located in the hotspot mutation region, and might be harmful. This study reports a novel disease-causing sequence variant in the gap junctional protein encoding genes causing autosomal dominant congenital cataract in the Chinese population, caused by the missense mutation of (c.178GA). Our data expand the spectrum of variants and associated phenotypes, facilitate clinical diagnosis and support the presence of relationship between genetic basis and human disease. A). Our data expand the spectrum of
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