Varaico: Literature-Extracted Genetic Variants

Gene:TAOK2
Variant:p.D169A
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TAOK2

NM_016151.4:p.D169A

Associated Papers

Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder.

Elkhateeb N et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025

Pleiotropic functions of TAO kinases and their dysregulation in neurological disorders.

Byeon S et al.

Science Signaling, 2024

WNK1 activates ERK5 by an MEKK2/3-dependent mechanism.

Xu BE et al.

The Journal of Biological Chemistry, 2004

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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."