Varaico: Literature-Extracted Genetic Variants

Gene:SMARCA4
Variant:p.E952fs
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SMARCA4

NM_003072.5:p.E952fs

Associated Papers

Inflammatory leiomyosarcoma/rhabdomyoblastic tumor: A report of two cases with novel genetic findings.

Sukhanova M et al.

Genes, Chromosomes & Cancer, 2022

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

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

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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."