Varaico: Literature-Extracted Genetic Variants

Gene:MAEA
Variant:p.C314S
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MAEA

NM_001017405.3:p.C314S

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

FAM72A degrades UNG2 through the GID/CTLH complex to promote mutagenic repair during antibody maturation.

Barbulescu P et al.

Nature Communications, 2024

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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."