Varaico: Literature-Extracted Genetic Variants

Gene:SMARCA4
Variant:p.E798fs
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SMARCA4

NM_003072.5:p.E798fs

Associated Papers

Germline mutations of SMARCA4 in small cell carcinoma of the ovary, hypercalcemic type and in SMARCA4-deficient undifferentiated uterine sarcoma: Clinical features of a single family and comparison of large cohorts.

Connor YD et al.

Gynecologic Oncology, 2020

Comprehensive genomic profiling reveals inactivating SMARCA4 mutations and low tumor mutational burden in small cell carcinoma of the ovary, hypercalcemic-type.

Lin DI et al.

Gynecologic Oncology, 2017

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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."