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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KCNA1

Variant:p.H203_D206delFs

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KCNA1

NM_000217.3:p.H203_D206delFs

hg38:chr12:4911984 CCACCGCATCG>C

Associated Papers

Retrospective genotype-phenotype analysis in a 305 patient cohort referred for testing of a targeted epilepsy panel.

Hesse AN et al.

Epilepsy Research, 2018

29778030 (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."