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Malignant rhabdoid "tumor," somatic
- ... the absence of SMARCA4 protein, cause noninherited (sporadic) rhabdoid tumors in children. Somatic variants in the SMARCA4 gene have also been ... Vater I, Siebert R. Germline nonsense mutation and somatic inactivation of ... with rhabdoid tumor predisposition syndrome. Am J Hum Genet. 2010 Feb ...
- ... Vater I, Siebert R. Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome. Am J Hum Genet. 2010 Feb ...
- ... as reduced penetrance. More About This Health Condition Somatic variants in both copies of the SMARCB1 gene, which result in the absence of SMARCB1 protein, cause noninherited (sporadic) rhabdoid tumors in children. As in RTPS (described above), the ...