• Mutation; HGNC; 11100; SMARCA4; Simple; c.2438+1G>A; ClinVar=VCV000537781; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=24658002; DepMap=ACH-001278).
  
• Mutation; HGNC; 11100; SMARCA4; Simple; c.2439-2A>T; Zygosity=Heterozygous; Note=Splice acceptor mutation (PubMed=24658002; DepMap=ACH-001278).
  

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Small cell ovarian carcinoma: genomic stability and responsiveness to therapeutics.
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PubMed=24658002; DOI=10.1038/ng.2931
Witkowski L., Carrot-Zhang J., Albrecht S., Fahiminiya S., Hamel N., Tomiak E., Grynspan D., Saloustros E., Nadaf J., Rivera B., Gilpin C., Castellsague E., Silva-Smith R., Plourde F., Wu M., Saskin A., Arseneault M., Karabakhtsian R.G., Reilly E.A., Ueland F.R., Margiolaki A., Pavlakis K., Castellino S.M., Lamovec J., Mackay H.J., Roth L.M., Ulbright T.M., Bender T.A., Georgoulias V., Longy M., Berchuck A., Tischkowitz M., Nagel I., Siebert R., Stewart C.J.R., Arseneau J., McCluggage W.G., Clarke B.A., Riazalhosseini Y., Hasselblatt M., Majewski J., Foulkes W.D.
Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type.
Nat. Genet. 46:438-443(2014)