Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.E55fs
Back to variants list

CDKL5

NM_001323289.2:p.E55fs

Associated Papers

Genetic Diagnosis Spectrum and Multigenic Burden of Exome-Level Rare Variants in a Childhood Epilepsy Cohort.

Yao R et al.

Frontiers in Genetics, 2021

34992632 (PubMed )
Supplement: Table3.XLSX › Sheet1

A novel transcript of cyclin-dependent kinase-like 5 (CDKL5) has an alternative C-terminus and is the predominant transcript in brain.

Williamson SL et al.

Human Genetics, 2012

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."