Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.R943fs
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CDKL5

NM_001323289.2:p.R943fs

Associated Papers

Pitfalls of clinical exome and gene panel testing: alternative transcripts.

Bodian DL et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

Mutation in an alternative transcript of CDKL5 in a boy with early-onset seizures.

Bodian DL et al.

Cold Spring Harbor Molecular Case Studies, 2018

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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."