Varaico: Literature-Extracted Genetic Variants

Gene:TLK1
Variant:p.P112_E113del2
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TLK1

NM_012290.5:p.P112_E113del2

Associated Papers

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

Villamor-Payà M et al.

Iscience, 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

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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."