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Journal Article
The Journal of Clinical Endocrinology & Metabolism, ISSN 0021-972X, 06/2015, Volume 100, Issue 6, pp. E900 - E909
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Journal Article
Journal Article
Journal Article
Nature, ISSN 0028-0836, 2013, Volume 503, Issue 7476, pp. 414 - 417
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Journal Article
Human Mutation, ISSN 1059-7794, 01/2019, Volume 40, Issue 1, pp. 48 - 52
The ability of variants of the spliceosomal U1snRNA to rescue splicing has been proven in several human disease models, but not for nucleotide changes at the... 
ExSpeU1 | human disease | hemophilia B | splicing mutations | RNA splicing | U1 SNRNA | CORRECT | RNA | DEFECT | GENES | GENETICS & HEREDITY | Protection and preservation | Analysis | Prothrombin complex concentrate | Hemophilia | Coagulation factors | Phenotypes | Splicing
Journal Article
by Wray, Naomi R and Ripke, Stephan and Mattheisen, Manuel and Trzaskowski, MacIej and Byrne, Enda M and Abdellaoui, Abdel and Adams, Mark J and Agerbo, Esben and Air, Tracy M and Andlauer, Till M. F and Bacanu, Silviu-Alin and Bækvad-Hansen, Marie and Beekman, Aartjan F. T and Bigdeli, Tim B and Binder, Elisabeth B and Blackwood, Douglas R. H and Bryois, Julien and Buttenschøn, Henriette N and Bybjerg-Grauholm, Jonas and Cai, Na and Castelao, Enrique and Christensen, Jane Hvarregaard and Clarke, Toni-Kim and Coleman, Jonathan I. R and Colodro-Conde, Lucía and Couvy-Duchesne, Baptiste and Craddock, Nick and Crawford, Gregory E and Crowley, Cheynna A and Dashti, Hassan S and Davies, Gail and Deary, Ian J and Degenhardt, Franziska and Derks, Eske M and DIrek, Nese and Dolan, Conor V and Dunn, Erin C and Eley, Thalia C and Eriksson, Nicholas and Escott-Price, Valentina and Kiadeh, Farnush Hassan Farhadi and Finucane, Hilary K and Forstner, Andreas J and Frank, Josef and Gaspar, Héléna A and Gill, Michael and Giusti-Rodríguez, Paola and Goes, Fernando S and Gordon, Scott D and Grove, Jakob and Hall, Lynsey S and Hannon, Eilis and Hansen, Christine Søholm and Hansen, Thomas F and Herms, Stefan and Hickie, Ian B and Hoffmann, Per and Homuth, Georg and Horn, Carsten and Hottenga, Jouke-Jan and Hougaard, David M and Hu, Ming and Hyde, Craig L and Ising, Marcus and Jansen, Rick and Jin, Fulai and Jorgenson, Eric and Knowles, James A and Kohane, Isaac S and Kraft, Julia and Kretzschmar, Warren W and Krogh, Jesper and Kutalik, Zoltán and Lane, Jacqueline M and Li, Yihan and Li, Yun and Lind, Penelope A and Liu, Xiaoxiao and Lu, Leina and MacIntyre, Donald J and MacKinnon, Dean F and Maier, Robert M and Maier, Wolfgang and Marchini, Jonathan and Mbarek, Hamdi and McGrath, Patrick and McGuffin, Peter and Medland, Sarah E and Mehta, DIvya and Middeldorp, Christel M and Mihailov, Evelin and Milaneschi, Yuri and Milani, Lili and Mill, Jonathan and Mondimore, Francis M and Montgomery, Grant W and Mostafavi, Sara and Mullins, Niamh and Nauck, Matthias and Ng, Bernard and ... and Major Depressive Disorder Working and EQTLGEN and eQTLGen and Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium and 23andMe and the Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium
Nature Genetics, ISSN 1061-4036, 05/2018, Volume 50, Issue 5, pp. 668 - 681
Journal Article