Varaico: Literature-Extracted Genetic Variants

Gene:SMARCA4
Variant:p.M1137fs
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SMARCA4

NM_003072.5:p.M1137fs

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

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

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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."