Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ2
Variant:p.T287P
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KCNQ2

NM_172107.4:p.T287P

Associated Papers

KCNQ2 Selectivity Filter Mutations Cause Kv7.2 M-Current Dysfunction and Configuration Changes Manifesting as Epileptic Encephalopathies and Autistic Spectrum Disorders.

Lee IC et al.

Cells, 2022

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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."