Varaico: Literature-Extracted Genetic Variants

Gene:CRYBB2
Variant:p.V146L
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CRYBB2

NM_000496.3:p.V146L

Associated Papers

Four mutations identified in Chinese families with autosomal dominant congenital cataracts by next-generation sequencing.

Yang X et al.

Genes & Genomics, 2024

Whole-exome sequencing identification of a recurrent CRYBB2 variant in a four-generation Chinese family with congenital nuclear cataracts.

Chen D et al.

Experimental and Therapeutic Medicine, 2021

Two novel mutations identified in ADCC families impair crystallin protein distribution and induce apoptosis in human lens epithelial cells.

Li L et al.

Scientific Reports, 2017

A Novel CRYBB2 Stopgain Mutation Causing Congenital Autosomal Dominant Cataract in a Chinese Family.

Zhou Y et al.

Journal of Ophthalmology, 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."