Varaico: Literature-Extracted Genetic Variants

Gene:CRYBB2
Variant:p.G61C
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CRYBB2

NM_000496.3:p.G61C

Associated Papers

A nonsense mutation of γD-crystallin associated with congenital nuclear and posterior polar cataract in a Chinese family.

Zhai Y et al.

International Journal of Medical Sciences, 2014

Structural integrity of the Greek key motif in βγ-crystallins is vital for central eye lens transparency.

Vendra VP et al.

Plos One, 2013

23936409 (PubMed )
Supplement: pone.0070336.s001.doc

The congenital cataract-linked A2V mutation impairs tetramer formation and promotes aggregation of βB2-crystallin.

Xu J et al.

Plos One, 2012

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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."