Varaico: Literature-Extracted Genetic Variants

Gene:TAOK1
Variant:p.E17G
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TAOK1

NM_020791.4:p.E17G

Associated Papers

Heterozygous truncating variant of TAOK1 in a boy with periventricular nodular heterotopia: a case report and literature review of TAOK1-related neurodevelopmental disorders.

Cavalli A et al.

Bmc Medical Genomics, 2024

38443934 (PubMed )
Supplement: 12920_2024_1840_MOESM1_ESM.xlsx › Foglio1

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

Byeon S et al.

Science Signaling, 2024

Genotype-Phenotype Correlations in Relation to Newly Emerging Monogenic Forms of Autism Spectrum Disorder and Associated Neurodevelopmental Disorders: The Importance of Phenotype Reevaluation after Pangenomic Results.

Lintas C et al.

Journal of Clinical Medicine, 2021

TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development.

van Woerden GM et al.

Human Mutation, 2021

Clinical and Neurobiological Aspects of TAO Kinase Family in Neurodevelopmental Disorders.

Hu C et al.

Frontiers in Molecular Neuroscience, 2021

De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders.

Dulovic-Mahlow M et al.

American Journal of Human Genetics, 2019

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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."