Varaico: Literature-Extracted Genetic Variants

Gene:KCNK4
Variant:p.V282M
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KCNK4

NM_033310.3:p.V282M

Associated Papers

Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca2+-Activated K+ Channel SK3 Cause Zimmermann-Laband Syndrome.

Bauer CK et al.

American Journal of Human Genetics, 2019

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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."