Varaico: Literature-Extracted Genetic Variants

Gene:CRYBB1
Variant:p.M1K
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CRYBB1

NM_001887.4:p.M1K

Associated Papers

Inherited cataracts: Genetic mechanisms and pathways new and old.

Shiels A et al.

Experimental Eye Research, 2021

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

Ji Y et al.

European 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

Partial duplication of the CRYBB1-CRYBA4 locus is associated with autosomal dominant congenital cataract.

Siggs OM et al.

European Journal of Human Genetics : Ejhg, 2017

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

Rao Y et al.

Molecular Vision, 2017

Molecular and structural analysis of genetic variations in congenital cataract.

Kumar M et al.

Molecular Vision, 2013

Clinical and molecular analysis of children with central pulverulent cataract from the Arabian Peninsula.

Khan AO et al.

The British Journal of Ophthalmology, 2012

Initiation codon mutation in betaB1-crystallin (CRYBB1) associated with autosomal recessive nuclear pulverulent cataract.

Meyer E et al.

Molecular Vision, 2009

Molecular characteristics of inherited congenital cataracts.

Huang B et al.

European Journal of Medical Genetics, 0

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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."