Varaico: Literature-Extracted Genetic Variants

Gene:CRYBB1
Variant:p.R230_V245delFs
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CRYBB1

NM_001887.4:p.R230_V245delFs

Associated Papers

Identification and functional characterization of a novel CRYBB1 deletion mutation causing autosomal dominant congenital cataract in a Chinese family.

Li L et al.

Bmc Ophthalmology, 2026

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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."