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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KCNQ3

Variant:p.K322M

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KCNQ3

NM_004519.4:p.K322M

hg38:chr8:132174318 T>A

Associated Papers

Functional Effects of Epilepsy Associated KCNT1 Mutations Suggest Pathogenesis via Aberrant Inhibitory Neuronal Activity.

Rychkov GY et al.

International Journal of Molecular Sciences, 2022

36499459 (PubMed )

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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."