• Gene deletion; HGNC; HGNC:11103; SMARCB1; Zygosity=Heterozygous (PubMed=9671307).
  
• Mutation; HGNC; HGNC:11103; SMARCB1; Simple; p.Gly317Aspfs*3 (c.950delG); Zygosity=Heterozygous (PubMed=9671307; PubMed=16945155).
  

PubMed=9671307; DOI=10.1038/28212
Isabella Versteege, Nicolas Sevenet, Julian Lange, Marie-Francoise Rousseau-Merck, Peter F. Ambros, Rupert Handgretinger, Alain Aurias, Olivier Delattre;
Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer.
Nature 394:203-206(1998)

PubMed=10397258
Marie-Francoise Rousseau-Merck, Isabella Versteege, Isabelle Legrand, Jerome Couturier, Aline Mairal, Olivier Delattre, Alain Aurias;
hSNF5/INI1 inactivation is mainly associated with homozygous deletions and mitotic recombinations in rhabdoid tumors.
Cancer Res. 59:3152-3156(1999)

PubMed=11782423; DOI=10.1093/emboj/21.1.31; PMCID=PMC125819
Errol Craig, Zhi-Kai Zhang, Kelvin P. Davies, Ganjam V. Kalpana;
A masked NES in INI1/hSNF5 mediates hCRM1-dependent nuclear export: implications for tumorigenesis.
EMBO J. 21:31-42(2002)

PubMed=16945155; DOI=10.1186/1742-4690-3-56; PMCID=PMC1592304
Masha Sorin, Eric Yung, Xu-Hong Wu, Ganjam V. Kalpana;
HIV-1 replication in cell lines harboring INI1/hSNF5 mutations.
Retrovirology 3:56.1-56.15(2006)