Varaico: Literature-Extracted Genetic Variants

Gene:KCNA2
Variant:p.E11K
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KCNA2

NM_004974.4:p.E11K

Associated Papers

De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.

Syrbe S et al.

Nature Genetics, 2015

25751627 (PubMed )
Supplement: NIHMS62156-supplement-4.xlsx › ExAC_variants

A single-nucleotide substitution mutator phenotype revealed by exome sequencing of human colon adenomas.

Nikolaev SI et al.

Cancer Research, 2012

23204322 (PubMed )
Supplement: 00085472can123869-sup-stab_3_xls_457k_rev.xls › Suppl_Table_S3.csv
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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."