Varaico: Literature-Extracted Genetic Variants

Gene:CRYBB1
Variant:p.V96F
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CRYBB1

NM_001887.4:p.V96F

Associated Papers

Genetic spectrum of congenital cataract with optional ocular and multisystem abnormalities.

Zhang H et al.

Bmc Medical Genomics, 2025

A novel missense mutation of CRYBB1 causes congenital cataract in a Chinese family.

Ji Y et al.

European Journal of Ophthalmology, 2021

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

Taylan Şekeroğlu H et al.

Turkish Journal of Ophthalmology, 2021

A Novel Mutation p.S93R in CRYBB1 Associated with Dominant Congenital Cataract and Microphthalmia.

Jin A et al.

Current Eye Research, 2020

A novel truncation mutation in CRYBB1 associated with autosomal dominant congenital cataract with nystagmus.

Rao Y et al.

Molecular Vision, 2017

Mutations in crystallin genes result in congenital cataract associated with other ocular abnormalities.

Sun Z et al.

Molecular Vision, 2017

Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes.

Reis LM et al.

Human Genetics, 2013

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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."