Varaico: Literature-Extracted Genetic Variants

Gene:LETM1
Variant:p.R106H
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LETM1

NM_012318.3:p.R106H

Associated Papers

Loss of CTLH component MAEA impairs DNA repair and replication and leads to developmental delay.

Hough SH et al.

Embo Molecular Medicine, 2025

Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.

Shchubelka K et al.

Journal of Neurodevelopmental Disorders, 2024

38539105 (PubMed )
Supplement: 11689_2024_9528_MOESM2_ESM.xlsx › Diagnosed
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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."