Varaico: Literature-Extracted Genetic Variants

Gene:AQP5
Variant:p.G213fs
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AQP5

NM_001651.4:p.G213fs

Associated Papers

The relationship between major intrinsic protein genes and cataract.

Sun W et al.

International Ophthalmology, 2021

Functional characterization of an AQP0 missense mutation, R33C, that causes dominant congenital lens cataract, reveals impaired cell-to-cell adhesion.

Kumari SS et al.

Experimental Eye Research, 2013

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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."