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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KCNQ2

Variant:p.G215delFs

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KCNQ2

NM_172107.4:p.G215delFs

hg38:chr20:63444704 TC>T

Associated Papers

A novel splicing mutation in KCNQ2 in a multigenerational family with BFNC followed for 25 years.

de Haan GJ et al.

Epilepsia, 2006

16686649 (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."