Varaico: Literature-Extracted Genetic Variants

Gene:CRYBA4
Variant:p.S128F
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CRYBA4

NM_001886.3:p.S128F

Associated Papers

Whole exome sequencing implicates eye development, the unfolded protein response and plasma membrane homeostasis in primary open-angle glaucoma.

Zhou T et al.

Plos One, 2017

Mutation analysis of the genes associated with anterior segment dysgenesis, microcornea and microphthalmia in 257 patients with glaucoma.

Huang X et al.

International Journal of Molecular Medicine, 2015

Diagnostic accuracy of next generation sequencing-based genetic research for primary glaucoma: A systematic review and meta-analysis.

Liu Y et al.

Survey of Ophthalmology, 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."