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pubmed-article:21108436pubmed:abstractTextGermline mutations and deletions of SMARCB1/INI1 in chromosome band 22q11.2 predispose patients to rhabdoid tumor and schwannomatosis. Previous estimates suggested that 15-20% of rhabdoid tumors were caused by an underlying germline abnormality of SMARCB1. However, these studies were limited by case selection and an inability to detect intragenic deletions and duplications.lld:pubmed
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pubmed-article:21108436pubmed:articleTitleSpectrum of SMARCB1/INI1 mutations in familial and sporadic rhabdoid tumors.lld:pubmed
pubmed-article:21108436pubmed:affiliationDivision of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.lld:pubmed
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