Publications:

An In-Depth Look at Small Cell Carcinoma of the Ovary, Hypercalcemic Type (SCCOHT): Clinical Implications from Recent Molecular Findings.

Journal Of Cancer

Lu, Bingjian B; Shi, Haiyan H

Publication Date: 2019

Variant appearance in text: SMARCA4: 3539delC

PubMed Link: 30662543

Variant Present in the following documents:

• Main text

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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: 3539_3539delC; Pro1180Leufs*36

PubMed Link: 28608987

Variant Present in the following documents:

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