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Ranking noncanonical 5′ splice site usage by genome-wide RNA-seq analysis and splicing reporter assays
Erkelenz, Steffen, Theiss, Stephan, Kaisers, Wolfgang, Ptok, Johannes, Walotka, Lara, Müller, Lisa, Hillebrand, Frank, Brillen, Anna-Lena, Sladek, Michael, Schaal, Heiner
Published in Genome research (01.12.2018)
Published in Genome research (01.12.2018)
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Journal Article
Splice variants of protein disulfide isomerase - identification, distribution and functional characterization in the rat
Chetot, Thomas, Serfaty, Xavier, Carret, Léna, Kriznik, Alexandre, Sophie-Rahuel-Clermont, Grand, Lucie, Jacolot, Maïwenn, Popowycz, Florence, Benoit, Etienne, Lambert, Véronique, Lattard, Virginie
Published in Biochimica et biophysica acta. General subjects (01.02.2023)
Published in Biochimica et biophysica acta. General subjects (01.02.2023)
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Journal Article
Full‐length transcriptome sequences and splice variants obtained by a combination of sequencing platforms applied to different root tissues of Salvia miltiorrhiza and tanshinone biosynthesis
Xu, Zhichao, Peters, Reuben J., Weirather, Jason, Luo, Hongmei, Liao, Baosheng, Zhang, Xin, Zhu, Yingjie, Ji, Aijia, Zhang, Bing, Hu, Songnian, Au, Kin Fai, Song, Jingyuan, Chen, Shilin
Published in The Plant journal : for cell and molecular biology (01.06.2015)
Published in The Plant journal : for cell and molecular biology (01.06.2015)
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Journal Article
Pathogenicity and selective constraint on variation near splice sites
Lord, Jenny, Gallone, Giuseppe, Short, Patrick J., McRae, Jeremy F., Ironfield, Holly, Wynn, Elizabeth H., Gerety, Sebastian S., He, Liu, Kerr, Bronwyn, Johnson, Diana S., McCann, Emma, Kinning, Esther, Flinter, Frances, Temple, I. Karen, Clayton-Smith, Jill, McEntagart, Meriel, Lynch, Sally Ann, Joss, Shelagh, Douzgou, Sofia, Dabir, Tabib, Clowes, Virginia, McConnell, Vivienne P.M., Lam, Wayne, Wright, Caroline F., FitzPatrick, David R., Firth, Helen V., Barrett, Jeffrey C., Hurles, Matthew E.
Published in Genome research (01.02.2019)
Published in Genome research (01.02.2019)
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Journal Article
Optimized flip angle schemes for the split acquisition of fast spin‐echo signals (SPLICE) sequence and application to diffusion‐weighted imaging
Rahbek, Sofie, Schakel, Tim, Mahmood, Faisal, Madsen, Kristoffer H., Philippens, Marielle E.P., Hanson, Lars G.
Published in Magnetic resonance in medicine (01.04.2023)
Published in Magnetic resonance in medicine (01.04.2023)
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Journal Article
Heterozygous splice mutation in PIK3R1 causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K
Lucas, Carrie L., Zhang, Yu, Venida, Anthony, Wang, Ying, Hughes, Jason, McElwee, Joshua, Butrick, Morgan, Matthews, Helen, Price, Susan, Biancalana, Matthew, Wang, Xiaochuan, Richards, Michael, Pozos, Tamara, Barlan, Isil, Ozen, Ahmet, Rao, V. Koneti, Su, Helen C., Lenardo, Michael J.
Published in The Journal of experimental medicine (15.12.2014)
Published in The Journal of experimental medicine (15.12.2014)
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Journal Article
splice
Published in A Dictionary of Construction, Surveying, and Civil Engineering
(23.01.2020)
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Reference
A functional splice variant associated with decreased asthma risk abolishes the ability of gasdermin B to induce epithelial cell pyroptosis
Panganiban, Ronald A., Sun, Maoyun, Dahlin, Amber, Park, Hae-Ryung, Kan, Mengyuan, Himes, Blanca E., Mitchel, Jennifer A., Iribarren, Carlos, Jorgenson, Eric, Randell, Scott H., Israel, Elliot, Tantisira, Kelan, Shore, Stephanie, Park, Jin-Ah, Weiss, Scott T., Wu, Ann Chen, Lu, Quan
Published in Journal of allergy and clinical immunology (01.11.2018)
Published in Journal of allergy and clinical immunology (01.11.2018)
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Journal Article
Neuronal Ceroid Lipofuscinosis in a Mixed-Breed Dog with a Splice Site Variant in CLN6
Mhlanga-Mutangadura, Tendai, Bullock, Garrett, Cerda-Gonzalez, Sofia, Katz, Martin L.
Published in Genes (23.05.2024)
Published in Genes (23.05.2024)
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Journal Article
An M1AP homozygous splice‐site mutation associated with severe oligozoospermia in a consanguineous family
Tu, Chaofeng, Wang, Ying, Nie, Hongchuan, Meng, Lanlan, Wang, Weili, Li, Yong, Li, Dongyan, Zhang, Huan, Lu, Guangxiu, Lin, Ge, Tan, Yue‐Qiu, Du, Juan
Published in Clinical genetics (01.05.2020)
Published in Clinical genetics (01.05.2020)
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Journal Article
Splice site and de novo variants can cause PLCG2-associated immune dysregulation with cold urticaria
Chou, Sophia R., Bailey, Alexis C., Baysac, Kathleen, Oler, Andrew J., Milner, Joshua D., Ombrello, Michael J.
Published in Journal of allergy and clinical immunology (01.03.2025)
Published in Journal of allergy and clinical immunology (01.03.2025)
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Journal Article
Neurexin 1 (NRXN1) splice isoform expression during human neocortical development and aging
Jenkins, A K, Paterson, C, Wang, Y, Hyde, T M, Kleinman, J E, Law, A J
Published in Molecular psychiatry (01.05.2016)
Published in Molecular psychiatry (01.05.2016)
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Journal Article
Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction
Reurink, Janine, Weisschuh, Nicole, Garanto, Alejandro, Dockery, Adrian, van den Born, L. Ingeborgh, Fajardy, Isabelle, Haer-Wigman, Lonneke, Kohl, Susanne, Wissinger, Bernd, Farrar, G. Jane, Ben-Yosef, Tamar, Pfiffner, Fatma Kivrak, Berger, Wolfgang, Weener, Marianna E., Dudakova, Lubica, Liskova, Petra, Sharon, Dror, Salameh, Manar, Offenheim, Ashley, Heon, Elise, Girotto, Giorgia, Gasparini, Paolo, Morgan, Anna, Bergen, Arthur A., ten Brink, Jacoline B., Klaver, Caroline C.W., Tranebjærg, Lisbeth, Rendtorff, Nanna D., Vermeer, Sascha, Smits, Jeroen J., Pennings, Ronald J.E., Aben, Marco, Oostrik, Jaap, Astuti, Galuh D.N., Corominas Galbany, Jordi, Kroes, Hester Y., Phan, Milan, van Zelst-Stams, Wendy A.G., Thiadens, Alberta A.H.J., Verheij, Joke B.G.M., van Schooneveld, Mary J., de Bruijn, Suzanne E., Li, Catherina H.Z., Hoyng, Carel B., Gilissen, Christian, Vissers, Lisenka E.L.M., Cremers, Frans P.M., Kremer, Hannie, van Wijk, Erwin, Roosing, Susanne
Published in HGG advances (13.04.2023)
Published in HGG advances (13.04.2023)
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Journal Article
Evidence of pathogenicity for the leaky splice variant c.1066‐6T>G in ATM
Schröder, Simone, Wieland, Britta, Ohlenbusch, Andreas, Yigit, Gökhan, Altmüller, Janine, Boltshauser, Eugen, Dörk, Thilo, Brockmann, Knut
Published in American journal of medical genetics. Part A (01.12.2020)
Published in American journal of medical genetics. Part A (01.12.2020)
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Journal Article
The paradoxical coexistence of hypophosphatemic rickets and increased bone density in spine of a subject carrying a novel splice site mutation in PHEX
Chen, Xiang, Tang, Meng-Jia, Wan, Shan, Zhang, Yi, Li, Yu-Jue, Yu, Xi-Jie
Published in Chinese medical journal (05.10.2019)
Published in Chinese medical journal (05.10.2019)
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Journal Article
A novel splice variant of FcγRIIa: A risk factor for anaphylaxis in patients with hypogammaglobulinemia
van der Heijden, Joris, Geissler, Judy, van Mirre, Edwin, van Deuren, Marcel, van der Meer, Jos W.M., Salama, Abdulgabar, van den Berg, Timo K., Roos, Dirk, Kuijpers, Taco W.
Published in Journal of allergy and clinical immunology (01.05.2013)
Published in Journal of allergy and clinical immunology (01.05.2013)
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Journal Article
Blood and cerebellar abundance of ATXN3 splice variants in spinocerebellar ataxia type 3/Machado-Joseph disease
Raposo, Mafalda, Hübener-Schmid, Jeannette, Tagett, Rebecca, Ferreira, Ana F., Vieira Melo, Ana Rosa, Vasconcelos, João, Pires, Paula, Kay, Teresa, Garcia-Moreno, Hector, Giunti, Paola, Santana, Magda M., Pereira de Almeida, Luis, Infante, Jon, van de Warrenburg, Bart P., de Vries, Jeroen J., Faber, Jennifer, Klockgether, Thomas, Casadei, Nicolas, Admard, Jakob, Schöls, Ludger, Riess, Olaf, Costa, Maria do Carmo, Lima, Manuela
Published in Neurobiology of disease (01.04.2024)
Published in Neurobiology of disease (01.04.2024)
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Journal Article
A Novel Splice Mutation in PLS3 Causes X‐linked Early Onset Low‐Turnover Osteoporosis
Laine, Christine M, Wessman, Maija, Toiviainen‐Salo, Sanna, Kaunisto, Mari A, Mäyränpää, Mervi K, Laine, Tero, Pekkinen, Minna, Kröger, Heikki, Välimäki, Ville‐Valtteri, Välimäki, Matti J, Lehesjoki, Anna‐Elina, Mäkitie, Outi
Published in Journal of bone and mineral research (01.03.2015)
Published in Journal of bone and mineral research (01.03.2015)
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Journal Article