Varaico: Literature-Extracted Genetic Variants

Gene:AQP4
Variant:p.D184E
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AQP4

NM_001650.7:p.D184E

Associated Papers

Genetic analysis of the aquaporin-4 gene for anti-AQP4 antibody-positive neuromyelitis optica in a Japanese population.

Ogasawara M et al.

Japanese Journal of Ophthalmology, 2016

No association of AQP4 polymorphisms with neuromyelitis optica and multiple sclerosis.

Yang TT et al.

Translational Neuroscience, 2016

Lack of association between AQP4 polymorphisms and risk of inflammatory demyelinating disease in a Korean population.

Park TJ et al.

Gene, 2014

D184E mutation in aquaporin-4 gene impairs water permeability and links to deafness.

Nicchia GP et al.

Neuroscience, 2011

Genetic variation in human aquaporins and effects on phenotypes of water homeostasis.

Sorani MD et al.

Human Mutation, 2008

Novel variants in human Aquaporin-4 reduce cellular water permeability.

Sorani MD et al.

Human Molecular Genetics, 2008

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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."