Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ2
Variant:p.Y280S
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KCNQ2

NM_172107.4:p.Y280S

Associated Papers

Skeletal anomaly and opisthotonus in early-onset epileptic encephalopathy with KCNQ2 abnormality.

Kawano O et al.

Brain & Development, 2023

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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."