Varaico: Literature-Extracted Genetic Variants

Gene:CRYBA1
Variant:p.P23T
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CRYBA1

NM_005208.5:p.P23T

Associated Papers

A missense mutation in CRYGD linked with autosomal dominant congenital cataract of aculeiform type.

Vanita V et al.

Molecular and Cellular Biochemistry, 2012

Crystallins and hereditary cataracts: molecular mechanisms and potential for therapy.

Andley UP

Expert Reviews in Molecular Medicine, 2006

CRYGD gene analysis in a family with autosomal dominant congenital cataract: evidence for molecular homogeneity and intrafamilial clinical heterogeneity in aculeiform cataract.

Zenteno JC et al.

Molecular Vision, 2005

A novel locus of coralliform cataract mapped to chromosome 2p24-pter.

Gao L et al.

Journal of Human Genetics, 2005

Investigation of crystallin genes in familial cataract, and report of two disease associated mutations.

Burdon KP et al.

The British Journal of Ophthalmology, 2004

Molecular genetic basis of inherited cataract and associated phenotypes.

Reddy MA et al.

Survey of Ophthalmology, 0

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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."