Varaico: Literature-Extracted Genetic Variants

Gene:CRYGD
Variant:p.L45P
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CRYGD

NM_006891.4:p.L45P

Associated Papers

Clinical and genetic characteristics of Chinese patients with familial or sporadic pediatric cataract.

Li J et al.

Orphanet Journal of Rare Diseases, 2018

Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract.

Patel N et al.

Human Genetics, 2017

Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Unknown Author

Genome Biology, 2015

26112015 (PubMed )
Supplement: 13059_2015_693_MOESM2_ESM.xls › Sheet1

Molecular genetics of congenital nuclear cataract.

Deng H et al.

European Journal of Medical Genetics, 2014

Genetic and allelic heterogeneity of Cryg mutations in eight distinct forms of dominant cataract in the mouse.

Graw J 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."