Varaico: Literature-Extracted Genetic Variants

Gene:CRYBA2
Variant:p.N115D
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CRYBA2

NM_057093.2:p.N115D

Associated Papers

Genetic architecture of congenital cataracts: correlation of pathogenic variants with morphology and clinical outcomes.

Guo D et al.

Progress in Retinal and Eye Research, 2025

A novel base substitution mutation of the CRYBA2 gene is associated with autosomal dominant congenital cataract.

Liu Y et al.

Gene, 2024

A novel missense mutation in the CRYBA2 caused autosomal dominant presenile cataract in a Chinese family.

Kong Y et al.

Molecular Genetics and Genomics : Mgg, 2023

Biology of Inherited Cataracts and Opportunities for Treatment.

Shiels A et al.

Annual Review of Vision Science, 2019

Targeted Exome Sequencing of Congenital Cataracts Related Genes: Broadening the Mutation Spectrum and Genotype-Phenotype Correlations in 27 Chinese Han Families.

Zhai Y et al.

Scientific Reports, 2017

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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."