Varaico: Literature-Extracted Genetic Variants

Gene:TLK2
Variant:p.R61*
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TLK2

NM_006852.6:p.R61*

Associated Papers

Report of two children with global developmental delay in association with de novo TLK2 variant and literature review.

Woods E et al.

American Journal of Medical Genetics. Part A, 2022

The Tousled-like kinases regulate genome and epigenome stability: implications in development and disease.

Segura-Bayona S et al.

Cellular and Molecular Life Sciences : Cmls, 2019

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

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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."