Varaico: Literature-Extracted Genetic Variants

Gene:CRYBA1
Variant:p.A72Splc
Back to variants list

CRYBA1

NM_005208.5:p.A72Splc

Associated Papers

Spectrum of inherited eye disorders at Hong Kong Children's Hospital: insights into the local genetic landscape and experience with ocular genetic services.

Cheng SSW et al.

Hong Kong Medical Journal = Xianggang Yi Xue Za Zhi, 2025

40755077 (PubMed )
Supplement: hkmj2412298-supplementary.pdf

The identification and characterization of the p.G91 deletion in CRYBA1 in a Chinese family with congenital cataracts.

Li D et al.

Bmc Medical Genetics, 2019

Mutation Analysis of Families with Autosomal Dominant Congenital Cataract: A Recurrent Mutation in the CRYBA1/A3 Gene Causing Congenital Nuclear Cataract.

Wang KJ et al.

Current Eye Research, 2018

A novel T→G splice site mutation of CRYBA1/A3 associated with autosomal dominant nuclear cataracts in a Chinese family.

Yang Z et al.

Molecular Vision, 2012

Congenital polymorphic cataract associated with a G to A splice site mutation in the human beta-crystallin gene CRYβA3/A1.

Yu Y et al.

Molecular Vision, 2012

A novel mutation in CRYAA is associated with autosomal dominant suture cataracts in a Chinese family.

Su D et al.

Molecular Vision, 2012

A G→T splice site mutation of CRYBA1/A3 associated with autosomal dominant suture cataracts in a Chinese family.

Yang Z et al.

Molecular Vision, 2011

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."