Varaico: Literature-Extracted Genetic Variants

Gene:TAOK1
Variant:p.R442W
Back to variants list

TAOK1

NM_020791.4:p.R442W

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

Inherited and de novo variants extend the etiology of TAOK1-associated neurodevelopmental disorder.

Hunter JM et al.

Cold Spring Harbor Molecular Case Studies, 2022

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."