Varaico: Literature-Extracted Genetic Variants

Gene:CRYBA4
Variant:p.G147V
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CRYBA4

NM_001886.3:p.G147V

Associated Papers

A novel missense variant c.71G > T (p.Gly24Val) of the CRYBA4 gene contributes to autosomal-dominant congenital cataract in a Chinese family.

Zhang X et al.

International Ophthalmology, 2023

In silico analysis and high-risk pathogenic phenotype predictions of non-synonymous single nucleotide polymorphisms in human Crystallin beta A4 gene associated with congenital cataract.

Wang Z et al.

Plos One, 2020

Novel mutations associated with autosomal-dominant congenital cataract identified in Chinese families.

Wang Z et al.

Experimental and Therapeutic Medicine, 2019

Molecular Genetic Analysis of Pakistani Families With Autosomal Recessive Congenital Cataracts by Homozygosity Screening.

Chen J et al.

Investigative Ophthalmology & Visual Science, 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."