Varaico: Literature-Extracted Genetic Variants

Gene:SMARCA4
Variant:p.L972P
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SMARCA4

NM_003072.5:p.L972P

Associated Papers

Multiple Somatic Mutations of SMARCA4 in Small Cell Carcinoma of the Ovary, Hypercalcemic Type: A Case Report.

Aoyagi Y et al.

Cureus, 2024

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 and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type.

Witkowski L et al.

Nature Genetics, 2014

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
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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."