Varaico: Literature-Extracted Genetic Variants

Gene:RBM42
Variant:p.P26S
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RBM42

NM_024321.5:p.P26S

Associated Papers

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.

Nava C et al.

Nature Genetics, 2025

40379786 (PubMed )
Supplement: 41588_2025_2184_MOESM4_ESM.xlsx › Supp._Table_8
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