Varaico: Literature-Extracted Genetic Variants

Gene:DOT1L
Variant:p.P1146R
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DOT1L

NM_032482.3:p.P1146R

Associated Papers

Loss of DOT1L disrupts neuronal transcription and leads to a neurodevelopmental disorder.

Maroni MJ et al.

Brain : a Journal of Neurology, 2026

40494548 (PubMed )
Supplement: awaf212_supplementary_data.zip › brain-2024-02804-File011.xlsx › S2_Clinical_Information_Supp
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