Varaico: Literature-Extracted Genetic Variants

Gene:TAOK1
Variant:p.R269Q
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TAOK1

NM_020791.4:p.R269Q

Associated Papers

Trio exome sequencing identifies de novo variants in novel candidate genes in 19.62% of CAKUT families.

Merz LM et al.

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

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

Fetal macrocephaly in the third trimester: Prenatal phenotype of TAOK1-associated neurodevelopmental disorder.

Liu CY et al.

European Journal of Obstetrics, Gynecology, and Reproductive Biology, 2023

Neurodevelopmental disorder-associated mutations in TAOK1 reveal its function as a plasma membrane remodeling kinase.

Beeman N et al.

Science Signaling, 2023

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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."