Varaico: Literature-Extracted Genetic Variants

Gene:CRYGD
Variant:p.Q155*
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CRYGD

NM_006891.4:p.Q155*

Associated Papers

Next generation sequencing in children with isolated congenital cataract.

Amanova G et al.

European Journal of Ophthalmology, 2025

Generation of Lens Progenitor Cells and Lentoid Bodies from Pluripotent Stem Cells: Novel Tools for Human Lens Development and Ocular Disease Etiology.

Cvekl A et al.

Cells, 2022

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

Lyu D et al.

Npj Regenerative Medicine, 2021

[Analysis of disease-causing gene mutation in three Chinese families with congenital inherited cataract].

Ma C et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2018

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

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

Genetics of crystallins: cataract and beyond.

Graw J

Experimental Eye Research, 2009

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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."