Publications:

Atypical teratoid/rhabdoid tumors (ATRTs) with SMARCA4 mutation are molecularly distinct from SMARCB1-deficient cases.

Acta Neuropathologica

Holdhof, Dörthe D; Johann, Pascal D PD; Spohn, Michael M; Bockmayr, Michael M; Safaei, Sepehr S; Joshi, Piyush P; Masliah-Planchon, Julien J; Ho, Ben B; Andrianteranagna, Mamy M; Bourdeaut, Franck F; Huang, Annie A; Kool, Marcel M; Upadhyaya, Santhosh A SA; Bendel, Anne E AE; Indenbirken, Daniela D; Foulkes, William D WD; Bush, Jonathan W JW; Creytens, David D; Kordes, Uwe U; Frühwald, Michael C MC; Hasselblatt, Martin M; Schüller, Ulrich U

Publication Date: 2021-02

Variant appearance in text: SMARCA4: Q118*

PubMed Link: 33331994

Variant Present in the following documents:

• Main text
• 401_2020_Article_2250.pdf

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Functional characterization of SMARCA4 variants identified by targeted exome-sequencing of 131,668 cancer patients.

Nature Communications

Fernando, Tharu M TM; Piskol, Robert R; Bainer, Russell R; Sokol, Ethan S ES; Trabucco, Sally E SE; Zhang, Qing Q; Trinh, Huong H; Maund, Sophia S; Kschonsak, Marc M; Chaudhuri, Subhra S; Modrusan, Zora Z; Januario, Thomas T; Yauch, Robert L RL

Publication Date: 2020-11-03

Variant appearance in text: SMARCA4: Q118*

PubMed Link: 33144586

Variant Present in the following documents:

• 41467_2020_19402_MOESM4_ESM.xlsx, sheet 1

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