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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KCNQ3

Variant:p.N217D

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KCNQ3

NM_004519.4:p.N217D

hg38:chr8:132180285 T>C

Associated Papers

Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance.

Zara F et al.

Epilepsia, 2013

23360469 (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."