Varaico: Literature-Extracted Genetic Variants

Gene:CRYGD
Variant:p.Y151*
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CRYGD

NM_006891.4:p.Y151*

Associated Papers

Truncation mutations of CRYGD gene in congenital cataracts cause protein aggregation by disrupting the structural stability of γD-crystallin.

Lin N et al.

International Journal of Biological Macromolecules, 2024

A Novel Insertion Variant of CRYGD Is Associated with Congenital Nuclear Cataract in a Chinese Family.

Zhuang X et al.

Plos One, 2015

Personalized diagnosis and management of congenital cataract by next-generation sequencing.

Gillespie RL et al.

Ophthalmology, 2014

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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."