Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ2
Variant:p.W146R
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KCNQ2

NM_172107.4:p.W146R

Associated Papers

Molecular Profiling of Polish Pediatric Patients with Epilepsy: A Single-Center Diagnostic Experience Using Next-Generation Sequencing.

Chałupczyńska B et al.

Genes, 2026

Newly discovered variants in unexplained neonatal encephalopathy.

Zhang R et al.

Molecular Genetics & Genomic Medicine, 2024

The Benefit of Multigene Panel Testing for the Diagnosis and Management of the Genetic Epilepsies.

Leduc-Pessah H et al.

Genes, 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."