Varaico: Literature-Extracted Genetic Variants

Gene:CD80
Variant:p.Q227*
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CD80

NM_005191.4:p.Q227*

Associated Papers

Potential role of βB1 crystallin in cataract formation:a systematic review.

Li M et al.

Archives of Biochemistry and Biophysics, 2025

Cataract-causing variant Q70P damages structural stability of βB1-crystallin and increases its tendency to form insoluble aggregates.

Zhang Y et al.

International Journal of Biological Macromolecules, 2023

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

Rao Y et al.

Molecular Vision, 2017

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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."