Varaico: Literature-Extracted Genetic Variants

Gene:CRYBB2
Variant:p.R188C
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CRYBB2

NM_000496.3:p.R188C

Associated Papers

Identification of Genetic Variants Causing Paediatric Cataract in Myanmar.

Jones JL et al.

Clinical Genetics, 2025

Cataract-Causing Mutant R188C of βB2 Crystallin With Low Structural Stability is Sensitive to Environmental Stresses and Prone to Aggregates Formation.

Yu Y et al.

Exploration (beijing, China), 2025

Identification of pathogenic genetic variants in patients with acquired early-onset bilateral cataracts using next-generation sequencing.

Fox JC et al.

Journal of Aapos : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus, 2024

Identification and characterization of six β-crystallin gene mutations associated with congenital cataract in Chinese families.

Yu Y et al.

Molecular Genetics & Genomic Medicine, 2021

Broadening the Mutation Spectrum in GJA8 and CHMP4B: Novel Missense Variants and the Associated Phenotypes in Six Chinese Han Congenital Cataracts Families.

Wang X et al.

Frontiers in Medicine, 2021

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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."