Varaico: Literature-Extracted Genetic Variants

Gene:TET3
Variant:p.R532*
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TET3

NM_001366022.1:p.R532*

Associated Papers

Unveiling New Clinical and Genetic Insights in Ultra-Rare Intellectual Disability Phenotypes: A Study of a Turkish Cohort.

Turkyilmaz A et al.

Clinical Genetics, 2025

A novel de novo TET3 loss-of-function variant in a Turkish boy presenting with neurodevelopmental delay and electrical status epilepticus during slow-wave sleep.

Sager SG et al.

Brain & Development, 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."