Varaico: Literature-Extracted Genetic Variants

Gene:TAOK1
Variant:p.R150Splc
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TAOK1

NM_020791.4:p.R150Splc

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

Paternal De Novo Variant of TAOK1 in a Fetus With Structural Brain Abnormalities.

Yu L et al.

Frontiers in Genetics, 2022

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."