Varaico: Literature-Extracted Genetic Variants

Gene:AQP2
Variant:p.T138R
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AQP2

NM_000486.6:p.T138R

Associated Papers

An MIP/AQP0 mutation with impaired trafficking and function underlies an autosomal dominant congenital lamellar cataract.

Senthil Kumar G et al.

Experimental Eye Research, 2013

Functional characterization of a human aquaporin 0 mutation that leads to a congenital dominant lens cataract.

Varadaraj K et al.

Experimental Eye Research, 2008

Functional impairment of lens aquaporin in two families with dominantly inherited cataracts.

Francis P et al.

Human Molecular Genetics, 2000

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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."