Associated Papers
A novel mutation in SMARCB1 associated with adult Coffin-Siris syndrome and meningioma.
Guo Z et al.
Acta Biochimica Et Biophysica Sinica, 2024
39563460 (PubMed )
Supplement: Table_S1.case_details.xlsx › Sheet1
Germline variants in SMARCB1 and other members of the BAF chromatin-remodeling complex across human disease entities: a meta-analysis.
Holsten T et al.
European Journal of Human Genetics : Ejhg, 2018
RNA-based analysis of two SMARCB1 mutations associated with familial schwannomatosis with meningiomas.
Melean G et al.
Neurogenetics, 2012
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