Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.A509V
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CDKL5

NM_001323289.2:p.A509V

Associated Papers

Kinome capture sequencing of high-grade serous ovarian carcinoma reveals novel mutations in the JAK3 gene.

Mittempergher L et al.

Plos One, 2020

32639993 (PubMed )
Supplement: pone.0235766.s008.xlsx › Table_S2B__all_genes_

Exploring Missense Mutations in Tyrosine Kinases Implicated with Neurodegeneration.

Sami N et al.

Molecular Neurobiology, 2017

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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."