Publications:

SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type.

The Journal Of Pathology

Errichiello, Edoardo E; Mustafa, Noor N; Vetro, Annalisa A; Notarangelo, Lucia Dora LD; de Jonge, Hugo H; Rinaldi, Berardo B; Vergani, Debora D; Giglio, Sabrina Rita SR; Morbini, Patrizia P; Zuffardi, Orsetta O

Publication Date: 2017-09

Variant appearance in text: SMARCA4: 1641_1641delC; Asp547Glufs*66

PubMed Link: 28608987

Variant Present in the following documents:

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Primary rhabdoid tumor of the ovary: When large cells become small cells.

Gynecologic Oncology Reports

Rabinovich, Alex A; Witkowski, Leora L; Shaco-Levi, Ruthy R; Meirovitz, Mihai M; Hasselblatt, Martin M; Foulkes, William D WD

Publication Date: 2015-04

Variant appearance in text: SMARCA4: 1641_1641delC; D547Efs*66

PubMed Link: 26076162

Variant Present in the following documents:

• Main text

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