Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ2
Variant:p.D172N
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KCNQ2

NM_172107.4:p.D172N

Associated Papers

Electro-mechanical coupling of KCNQ channels is a target of epilepsy-associated mutations and retigabine.

Yang ND et al.

Science Advances, 2022

35857840 (PubMed )
Supplement: sciadv.abo3625_sm.pdf
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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."