Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.E49Splc
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CDKL5

NM_001323289.2:p.E49Splc

Associated Papers

Novel CDKL5 Mutations in Czech Patients with Phenotypes of Atypical Rett Syndrome and Early-Onset Epileptic Encephalopathy.

Záhoráková D et al.

Folia Biologica, 2016

CDKL5 gene status in female patients with epilepsy and Rett-like features: two new mutations in the catalytic domain.

Maortua H et al.

Bmc Medical Genetics, 2012

Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disorders.

White R et al.

Twin Research and Human Genetics : the Official Journal of the International Society for Twin Studies, 2010

Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation.

Tao J et al.

American Journal of Human Genetics, 2004

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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."