Associated Papers
High-throughput screening of human genetic variants by pooled prime editing.
Herger M et al.
Cell Genomics, 2025
40120586 (PubMed )
Supplement: mmc5.xlsx › Table_supp_SMARCB1-VariantData
A Carboxy-terminal Smarcb1 Point Mutation Induces Hydrocephalus Formation and Affects AP-1 and Neuronal Signalling Pathways in Mice.
Brugmans AK et al.
Cellular and Molecular Neurobiology, 2023
37219662 (PubMed )
Supplement: 10571_2023_1361_MOESM2_ESM.xlsx › COSMIC_Cancer_all_mutations
Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders.
Valencia AM et al.
Nature Genetics, 2023
Comprehensive evaluation of coding region point mutations in microsatellite-unstable colorectal cancer.
Kondelin J et al.
Embo Molecular Medicine, 2018
30108113 (PubMed )
Supplement: EMMM-10-e8552-s005.xlsx › Sheet1
SMARCB1/INI1 maternal germ line mosaicism in schwannomatosis.
Hulsebos TJ et al.
Clinical Genetics, 2010
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