Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ1
Variant:p.V53E
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KCNJ1

NM_153766.3:p.V53E

Associated Papers

A novel ion conducting route besides the central pore in an inherited mutant of G-protein-gated inwardly rectifying K+ channel.

Chen IS et al.

The Journal of Physiology, 2022

Functional implications of mutations in the human renal outer medullary potassium channel (ROMK2) identified in Bartter syndrome.

Starremans PG et al.

Pflugers Archiv : European Journal of Physiology, 2002

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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."