Varaico: Literature-Extracted Genetic Variants

Gene:KCNA3
Variant:p.G77R
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KCNA3

NM_002232.5:p.G77R

Associated Papers

EAST/SeSAME Syndrome and Beyond: The Spectrum of Kir4.1- and Kir5.1-Associated Channelopathies.

Lo J et al.

Frontiers in Physiology, 2022

The role of glial-specific Kir4.1 in normal and pathological states of the CNS.

Nwaobi SE et al.

Acta Neuropathologica, 2016

Determinants of Dengue Virus NS4A Protein Oligomerization.

Lee CM et al.

Journal of Virology, 2015

KCNJ10 mutations display differential sensitivity to heteromerisation with KCNJ16.

Parrock S et al.

Nephron. Physiology, 2013

The salt-wasting phenotype of EAST syndrome, a disease with multifaceted symptoms linked to the KCNJ10 K+ channel.

Bandulik S et al.

Pflugers Archiv : European Journal of Physiology, 2011

Inwardly rectifying potassium channels: their structure, function, and physiological roles.

Hibino H et al.

Physiological Reviews, 2010

Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations.

Bockenhauer D et al.

The New England Journal of Medicine, 2009

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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."