Varaico: Literature-Extracted Genetic Variants

Gene:CRYBB3
Variant:p.R75H
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CRYBB3

NM_004076.5:p.R75H

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

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

Congenital Cataract and Its Genetics: The Era of Next-Generation Sequencing

Taylan Şekeroğlu H et al.

Turkish Journal of Ophthalmology, 2021

A Common Ancestral Mutation in CRYBB3 Identified in Multiple Consanguineous Families with Congenital Cataracts.

Jiao X et al.

Plos One, 2016

Molecular genetics of congenital nuclear cataract.

Deng H et al.

European Journal of Medical Genetics, 2014

Comprehensive mutational screening in a cohort of Danish families with hereditary congenital cataract.

Hansen L et al.

Investigative Ophthalmology & Visual Science, 2009

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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."