Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ2
Variant:p.S195_A196insFs
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KCNQ2

NM_172107.4:p.S195_A196insFs

Associated Papers

Benign familial neonatal convulsions: novel mutation in a newborn.

Lee IC et al.

Pediatric Neurology, 2009

A novel splicing mutation in KCNQ2 in a multigenerational family with BFNC followed for 25 years.

de Haan GJ et al.

Epilepsia, 2006

Novel mutations in the KCNQ2 gene link epilepsy to a dysfunction of the KCNQ2-calmodulin interaction.

Richards MC et al.

Journal of Medical Genetics, 2004

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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."