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reports. In addition, the effect on splicing in a minigene assay of a novel splice site variant in the NHS gene (c.[719-2AG]) supported the pathogenicity of this variant. This study emphasizes the importance of genetic testing of congenital cataracts. Known dominant genes need to be considered for recessive inheritance patterns. Syndromic types of cataract may be underdiagnosed in patients with mild systemic features. This study emphasizes the importance of genetic testing of congenital cataracts. Known dominant genes need to be co
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