Varaico: Literature-Extracted Genetic Variants

Gene:SMARCB1
Variant:p.E210Splc
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SMARCB1

NM_003073.5:p.E210Splc

Associated Papers

Constitutional mosaicism of pathogenic variants in SMARCB1 in a subset of patients with sporadic rhabdoid tumors.

Fleischmann LS et al.

Neuro-oncology, 2025

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

Frequent hSNF5/INI1 germline mutations in patients with rhabdoid tumor.

Bourdeaut F et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2011

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