Varaico: Literature-Extracted Genetic Variants

Gene:TLK1
Variant:p.P25L
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TLK1

NM_012290.5:p.P25L

Associated Papers

Autophosphorylation of the Tousled-like kinases TLK1 and TLK2 regulates recruitment to damaged chromatin via PCNA interaction.

West KL et al.

Nucleic Acids Research, 2025

De novo TLK1 and MDM1 mutations in a patient with a neurodevelopmental disorder and immunodeficiency.

Villamor-Payà M et al.

Iscience, 2024

Autophosphorylation of the Tousled-like kinases TLK1 and TLK2 regulates recruitment to damaged chromatin via PCNA interaction.

West KL et al.

Biorxiv : the Preprint Server for Biology, 2024

Identification of a de novo mutation in TLK1 associated with a neurodevelopmental disorder and immunodeficiency.

Villamor-Payà M et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders.

Jia X et al.

Science Advances, 2022

35977029 (PubMed )
Supplement: sciadv.abo7112_data_s1_to_s8.zip › sciadv.abo7112_data_s1_to_s8.xlsx › Table_S7._DNM_in_SG_genes

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.

Reijnders MRF et al.

American Journal of Human Genetics, 2018

Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability.

Reijnders MRF et al.

Nature Communications, 2017

29051493 (PubMed )
Supplement: 41467_2017_933_MOESM5_ESM.xlsx › All_de_novo_mutations
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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."