Varaico: Literature-Extracted Genetic Variants

Gene:PRKN
Variant:p.L272L
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PRKN

NM_004562.3:p.L272L

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

41420108 (PubMed )
Supplement: 44321_2025_352_MOESM3_ESM.xlsx › Sheet1
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