Varaico: Literature-Extracted Genetic Variants

Gene:SMARCA4
Variant:p.E1254*
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SMARCA4

NM_003072.5:p.E1254*

Associated Papers

Novel Findings in Pediatric and Adolescent Patients With Cancer and a Germline SMARCA4 Variant.

van Engelen N et al.

Pediatric Blood & Cancer, 2025

40580017 (PubMed )
Supplement: supplement_1.docx

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

Lu B et al.

Journal of Cancer, 2019

Germline SMARCA4 mutations in patients with ovarian small cell carcinoma of hypercalcemic type.

Moes-Sosnowska J et al.

Orphanet Journal of Rare Diseases, 2015

Loss of the tumor suppressor SMARCA4 in small cell carcinoma of the ovary, hypercalcemic type (SCCOHT).

Ramos P et al.

Rare Diseases (austin, Tex.), 2014

26942101 (PubMed )
Supplement: krad-02-01-967148-s001.zip › 967148_Supplementary_Materials › 967148_Supplemental_Table_1.xlsx › Supplemental_Table_1

Ovarian small cell carcinoma of hypercalcemic type - evidence of germline origin and SMARCA4 gene inactivation. a pilot study.

Kupryjańczyk J et al.

Polish Journal of Pathology : Official Journal of the Polish Society of Pathologists, 2013

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."