Varaico: Literature-Extracted Genetic Variants

Gene:MAEA
Variant:p.M396R
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MAEA

NM_001017405.3:p.M396R

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

Pathogenic variants in MAEA disrupt DNA replication fork stability and are associated with developmental abnormalities in humans.

Zeinali E et al.

Science Advances, 2025

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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."