Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ3
Variant:p.I273N
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KCNQ3

NM_004519.4:p.I273N

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

KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients.

Millichap JJ et al.

Neurology. Genetics, 2016

27602407 (PubMed )
Supplement: supp_2.5.e96_tables.docx
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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."