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

PubMed=2845729; DOI=10.1002/jbmr.5650010309
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Differential cyclic AMP responses to calcitonin among human ovarian carcinoma cell lines: a calcitonin-responsive line derived from a rare tumor type.
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PubMed=1331173; DOI=10.1172/JCI116046; PMCID=PMC443230
Gorn A.H., Lin H.Y., Yamin M., Auron P.E., Flannery M.R., Tapp D.R., Manning C.A., Lodish H.F., Krane S.M., Goldring S.R.
Cloning, characterization, and expression of a human calcitonin receptor from an ovarian carcinoma cell line.
J. Clin. Invest. 90:1726-1735(1992)

PubMed=23433318; DOI=10.1186/1750-1172-8-33; PMCID=PMC3635907
Gamwell L.F., Gambaro K., Merziotis M., Crane C., Arcand S.L., Bourada V., Davis C., Squire J.A., Huntsman D.G., Tonin P.N., Vanderhyden B.C.
Small cell ovarian carcinoma: genomic stability and responsiveness to therapeutics.
Orphanet J. Rare Dis. 8:33.1-33.14(2013)

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)