Varaico: Literature-Extracted Genetic Variants

Gene:ATP2B3
Variant:p.G432R
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ATP2B3

NM_001001344.3:p.G432R

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 › S1_Clinical_Information_Main
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