Varaico: Literature-Extracted Genetic Variants

Gene:SMARCA4
Variant:p.K872_I873Splc
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SMARCA4

NM_003072.5:p.K872_I873Splc

Associated Papers

Ovarian carcinoma in children with constitutional mutation of SMARCA4: single-family report and literature review.

Pastorczak A et al.

Familial Cancer, 2021

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

Molecular analyses reveal close similarities between small cell carcinoma of the ovary, hypercalcemic type and atypical teratoid/rhabdoid tumor.

Fahiminiya S et al.

Oncotarget, 2016

26646792 (PubMed )
Supplement: oncotarget-07-1732-s001.pdf

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

Witkowski L 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."