Varaico: Literature-Extracted Genetic Variants

Gene:CRYBB3
Variant:p.G76R
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CRYBB3

NM_004076.5:p.G76R

Associated Papers

Analysis of mouse lens morphological and proteomic abnormalities following deletion of the βB3-crystallin promoter.

Rayêe D et al.

Experimental Eye Research, 2025

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

Analysis of mouse lens morphological and proteomic abnormalities following depletion of βB3-crystallin.

Rayêe D et al.

Biorxiv : the Preprint Server for Biology, 2024

Effect of clinical whole exome sequencing in aetiological investigation and reproductive risk prediction for a couple with monogenic inherited diseases.

Wang Y et al.

Frontiers in Genetics, 2024

Novel Mutation in CRYBB3 Causing Pediatric Cataract and Microphthalmia.

Zin OA et al.

Genes, 2021

34356085 (PubMed )
Supplement: genes-12-01069-s001.zip › genes-1253197-supplementary.pdf

Distribution of gene mutations in sporadic congenital cataract in a Han Chinese population.

Li D et al.

Molecular Vision, 2016

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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."