Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.Q902*
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CDKL5

NM_001323289.2:p.Q902*

Associated Papers

Aminoglycoside drugs induce efficient read-through of CDKL5 nonsense mutations, slightly restoring its kinase activity.

Fazzari M et al.

Rna Biology, 2019

The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome.

Vidal S et al.

Scientific Reports, 2017

28947817 (PubMed )
Supplement: 41598_2017_11620_MOESM1_ESM.pdf
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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."