Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.D135Splc
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CDKL5

NM_001323289.2:p.D135Splc

Associated Papers

Recurrent occurrences of CDKL5 mutations in patients with epileptic encephalopathy.

Yamamoto T et al.

Human Genome Variation, 2015

CDKL5 gene-related epileptic encephalopathy: electroclinical findings in the first year of life.

Melani F et al.

Developmental Medicine and Child Neurology, 2011

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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."