Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ2
Variant:p.K283insFs
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KCNQ2

NM_172107.4:p.K283insFs

Associated Papers

A de novo KCNQ2 Gene Mutation Associated With Non-familial Early Onset Seizures: Case Report and Revision of Literature Data.

Laccetta G et al.

Frontiers in Pediatrics, 2019

Benign familial neonatal convulsions: novel mutation in a newborn.

Lee IC et al.

Pediatric Neurology, 2009

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."