Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ18
Variant:p.I144fs
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KCNJ18

NM_001194958.2:p.I144fs

Associated Papers

Whole genome and exome sequencing realignment supports the assignment of KCNJ12, KCNJ17, and KCNJ18 paralogous genes in thyrotoxic periodic paralysis locus: functional characterization of two polymorphic Kir2.6 isoforms.

Paninka RM et al.

Molecular Genetics and Genomics : Mgg, 2016

Mutations in potassium channel Kir2.6 cause susceptibility to thyrotoxic hypokalemic periodic paralysis.

Ryan DP et al.

Cell, 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."