Varaico: Literature-Extracted Genetic Variants

Gene:CRYBB2
Variant:p.R198C
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CRYBB2

NM_000496.3:p.R198C

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

Crystalline gene mutations in Turkish children with congenital cataracts.

Karahan M et al.

International Ophthalmology, 2021

Targeted Genes Sequencing Identified a Novel 15 bp Deletion on GJA8 in a Chinese Family with Autosomal Dominant Congenital Cataracts.

Min HY et al.

Chinese Medical Journal, 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."