Varaico: Literature-Extracted Genetic Variants

Gene:MAEA
Variant:p.T28M
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MAEA

NM_001017405.3:p.T28M

Associated Papers

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

Zeinali E et al.

Science Advances, 2025

40880485 (PubMed )
Supplement: sciadv.adv0381_sm.pdf
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