Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.E49K
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CDKL5

NM_001323289.2:p.E49K

Associated Papers

Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.

Traynelis J et al.

Genome Research, 2017

28864458 (PubMed )
Supplement: supp_gr.226589.117_Supplemental_Data_S1.xlsx › Data_S1

Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy.

Kodera H et al.

Epilepsia, 2013

Performance comparison of bench-top next generation sequencers using microdroplet PCR-based enrichment for targeted sequencing in patients with autism spectrum disorder.

Koshimizu E et al.

Plos One, 2013

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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."