Varaico: Literature-Extracted Genetic Variants

Gene:KCNA3
Variant:p.M1I
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KCNA3

NM_002232.5:p.M1I

Associated Papers

Rare KCNJ18 variants do not explain hypokalaemic periodic paralysis in 263 unrelated patients.

Kuhn M et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2016

Immune dysregulation, polyendocrinopathy, enteropathy, x-linked syndrome: a paradigm of immunodeficiency with autoimmunity.

Barzaghi F et al.

Frontiers in Immunology, 2012

Clinical and molecular genetics of neonatal diabetes due to mutations in the insulin gene.

Støy J et al.

Reviews in Endocrine & Metabolic Disorders, 2010

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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."