Varaico: Literature-Extracted Genetic Variants

Gene:SMARCB1
Variant:p.S7_V15Fs
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SMARCB1

NM_003073.5:p.S7_V15Fs

Associated Papers

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

Rhabdoid tumor predisposition syndrome caused by SMARCB1 constitutional deletion: prenatal detection of new case of recurrence in siblings due to gonadal mosaicism.

Gigante L et al.

Familial Cancer, 2016

Spectrum of SMARCB1/INI1 mutations in familial and sporadic rhabdoid tumors.

Eaton KW et al.

Pediatric Blood & Cancer, 2011

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