Varaico: Literature-Extracted Genetic Variants

Gene:CRYBB2
Variant:p.V187E
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CRYBB2

NM_000496.3:p.V187E

Associated Papers

Modeling congenital cataract in vitro using patient-specific induced pluripotent stem cells.

Lyu D et al.

Npj Regenerative Medicine, 2021

Imbalances in the eye lens proteome are linked to cataract formation.

Schmid PWN et al.

Nature Structural & Molecular Biology, 2021

Crybb2 Mutations Consistently Affect Schizophrenia Endophenotypes in Mice.

Heermann T et al.

Molecular Neurobiology, 2019

Molecular genetics of congenital nuclear cataract.

Deng H et al.

European Journal of Medical Genetics, 2014

The importance of the last strand at the C-terminus in βB2-crystallin stability and assembly.

Zhang K et al.

Biochimica Et Biophysica Acta, 2014

Characterization of a novel mutation in the CRYBB2 gene associated with autosomal dominant congenital posterior subcapsular cataract in a Chinese family.

Yao K et al.

Molecular Vision, 2011

Mouse models of cataract.

Graw J

Journal of Genetics, 2009

Mutation analysis of congenital cataract in a Basotho family identified a new missense allele in CRYBB2.

Mothobi ME et al.

Molecular Vision, 2009

Domain interaction sites of human lens betaB2-crystallin.

Liu BF et al.

The Journal of Biological Chemistry, 2006

Mutation analysis of congenital cataracts in Indian families: identification of SNPS and a new causative allele in CRYBB2 gene.

Santhiya ST et al.

Investigative Ophthalmology & Visual Science, 2004

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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."