Varaico: Literature-Extracted Genetic Variants

Gene:TAOK1
Variant:p.L167R
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TAOK1

NM_020791.4:p.L167R

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

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

Taok1 haploinsufficiency leads to autistic-like behaviors in mice via the dorsal raphe nucleus.

Wang J et al.

Cell Reports, 2023

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

Beeman N et al.

Science Signaling, 2023

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

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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."