Varaico: Literature-Extracted Genetic Variants

Gene:TAOK2
Variant:p.V1129I
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TAOK2

NM_016151.4:p.V1129I

Associated Papers

Human inherited CCR2 deficiency underlies progressive polycystic lung disease.

Neehus AL et al.

Cell, 2024

38157855 (PubMed )
Supplement: NIHMS1949155-supplement-MMC1.pdf

Early-onset hereditary isolated non-neurogenic orthostatic hypotension in a Swedish family.

Fagius J et al.

Clinical Autonomic Research : Official Journal of the Clinical Autonomic Research Society, 2023

37460866 (PubMed )
Supplement: 10286_2023_963_MOESM2_ESM.xlsx › Variants

Altered TAOK2 activity causes autism-related neurodevelopmental and cognitive abnormalities through RhoA signaling.

Richter M et al.

Molecular Psychiatry, 2019

29467497 (PubMed )
Supplement: 41380_2018_25_MOESM1_ESM.pdf
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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."