Varaico: Literature-Extracted Genetic Variants

Gene:CRYBB1
Variant:p.R123H
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CRYBB1

NM_001887.4:p.R123H

Associated Papers

A novel missense mutation of CRYBB1 causes congenital cataract in a Chinese family.

Ji Y et al.

European Journal of Ophthalmology, 2021

A Novel Mutation p.S93R in CRYBB1 Associated with Dominant Congenital Cataract and Microphthalmia.

Jin A et al.

Current Eye Research, 2020

A novel truncation mutation in CRYBB1 associated with autosomal dominant congenital cataract with nystagmus.

Rao Y et al.

Molecular Vision, 2017

Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.

Ma AS et al.

Human Mutation, 2016

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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."