Varaico: Literature-Extracted Genetic Variants

Gene:SLC8B1
Variant:p.A11E
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SLC8B1

NM_001358345.2:p.A11E

Associated Papers

De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders.

Uguen K et al.

Nature Communications, 2026

41577671 (PubMed )
Supplement: 41467_2026_68284_MOESM1_ESM.pdf
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