Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.L836_K837delFs
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CDKL5

NM_001323289.2:p.L836_K837delFs

Associated Papers

Screening of UBE3A gene in patients referred for Angelman Syndrome.

Tzagkaraki E et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2013

Novel human pathological mutations. Gene symbol: UBE3A. Disease: Angelman Syndrome.

Tzagkaraki E et al.

Human Genetics, 2009

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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."