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PubMed for id: 23384

89 results

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Page 1
Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome.
Kruszka P, Li D, Harr MH, Wilson NR, Swarr D, McCormick EM, Chiavacci RM, Li M, Martinez AF, Hart RA, McDonald-McGinn DM, Deardorff MA, Falk MJ, Allanson JE, Hudson C, Johnson JP, Saadi I, Hakonarson H, Muenke M, Zackai EH. Kruszka P, et al. J Med Genet. 2015 Feb;52(2):104-10. doi: 10.1136/jmedgenet-2014-102677. Epub 2014 Nov 20. J Med Genet. 2015. PMID: 25412741 Free PMC article.
BCL6-SPECC1L: A Novel Fusion Gene in Nasopharyngeal Carcinoma.
Fang SG, Xia TL, Fu JC, Li T, Zhong Q, Han F. Fang SG, et al. Technol Cancer Res Treat. 2022 Jan-Dec;21:15330338221139981. doi: 10.1177/15330338221139981. Technol Cancer Res Treat. 2022. PMID: 36412101 Free PMC article.
Recurrent SPECC1L-NTRK fusions in pediatric sarcoma and brain tumors.
Khuong-Quang DA, Brown LM, Wong M, Mayoh C, Sexton-Oates A, Kumar A, Pinese M, Nagabushan S, Lau L, Ludlow LE, Gifford AJ, Rodriguez M, Desai J, Fox SB, Haber M, Ziegler DS, Hansford JR, Marshall GM, Cowley MJ, Ekert PG. Khuong-Quang DA, et al. Cold Spring Harb Mol Case Stud. 2020 Dec 17;6(6):a005710. doi: 10.1101/mcs.a005710. Print 2020 Dec. Cold Spring Harb Mol Case Stud. 2020. PMID: 33144287 Free PMC article.
Evidence for transcript networks composed of chimeric RNAs in human cells.
Djebali S, Lagarde J, Kapranov P, Lacroix V, Borel C, Mudge JM, Howald C, Foissac S, Ucla C, Chrast J, Ribeca P, Martin D, Murray RR, Yang X, Ghamsari L, Lin C, Bell I, Dumais E, Drenkow J, Tress ML, Gelpí JL, Orozco M, Valencia A, van Berkum NL, Lajoie BR, Vidal M, Stamatoyannopoulos J, Batut P, Dobin A, Harrow J, Hubbard T, Dekker J, Frankish A, Salehi-Ashtiani K, Reymond A, Antonarakis SE, Guigó R, Gingeras TR. Djebali S, et al. PLoS One. 2012;7(1):e28213. doi: 10.1371/journal.pone.0028213. Epub 2012 Jan 4. PLoS One. 2012. PMID: 22238572 Free PMC article.
89 results