Varaico: Literature-Extracted Genetic Variants

Gene:SMARCA4
Variant:p.E952delFs
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SMARCA4

NM_003072.5:p.E952delFs

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

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

Fernando TM et al.

Nature Communications, 2020

33144586 (PubMed )
Supplement: 41467_2020_19402_MOESM4_ESM.xlsx › Sheet1

Resectable lung lesions malignancy assessment and cancer detection by ultra-deep sequencing of targeted gene mutations in plasma cell-free DNA.

Peng M et al.

Journal of Medical Genetics, 2019

30981987 (PubMed )
Supplement: jmedgenet-2018-105825supp001.xlsx › Table_S3

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

Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4.

Ramos P et al.

Nature Genetics, 2014

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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."