Associated Papers
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar
Identification and characterization of six β-crystallin gene mutations associated with congenital cataract in Chinese families.
Yu Y et al.
Molecular Genetics & Genomic Medicine, 2021
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
Biochemical characterization of G64W mutant of acidic beta-crystallin 4.
Li W et al.
Experimental Eye Research, 2019
Differential effect of cataract-associated mutations in MAF on transactivation of MAF target genes.
Vanita V et al.
Molecular and Cellular Biochemistry, 2014
Molecular and structural analysis of genetic variations in congenital cataract.
Kumar M et al.
Molecular Vision, 2013
A missense mutation in CRYBA4 associated with congenital cataract and microcornea.
Zhou G et al.
Molecular Vision, 2010
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