Varaico: Literature-Extracted Genetic Variants

Gene:CLCC1
Variant:p.L58*
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CLCC1

NM_001377458.1:p.L58*

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-3.xls › patient_1
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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."