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GraphTyper2 enables population-scale genotyping of structural variation using pangenome graphs by Hannes P. Eggertsson, Snaedis Kristmundsdottir, Doruk Beyter, Hakon Jonsson, Astros Skuladottir, Marteinn T. Hardarson, Daniel F. Gudbjartsson, Kari Stefansson, Bjarni V. Halldorsson, Pall Melsted
Published 2019-11-01
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2
A PRPH splice-donor variant associates with reduced sural nerve amplitude and risk of peripheral neuropathy by Gyda Bjornsdottir, Erna V. Ivarsdottir, Kristbjorg Bjarnadottir, Stefania Benonisdottir, Sandra Sif Gylfadottir, Gudny A. Arnadottir, Rafn Benediktsson, Gisli Hreinn Halldorsson, Anna Helgadottir, Adalbjorg Jonasdottir, Aslaug Jonasdottir, Ingileif Jonsdottir, Anna Margret Kristinsdottir, Olafur Th. Magnusson, Gisli Masson, Pall Melsted, Thorunn Rafnar, Asgeir Sigurdsson, Gunnar Sigurdsson, Astros Skuladottir, Valgerdur Steinthorsdottir, Unnur Styrkarsdottir, Gudmundur Thorgeirsson, Gudmar Thorleifsson, Arnor Vikingsson, Daniel F. Gudbjartsson, Hilma Holm, Hreinn Stefansson, Unnur Thorsteinsdottir, Gudmundur L. Norddahl, Patrick Sulem, Thorgeir E. Thorgeirsson, Kari Stefansson
Published 2019-04-01
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3
Sequence variant affects GCSAML splicing, mast cell specific proteins, and risk of urticaria by Ragnar P. Kristjansson, Gudjon R. Oskarsson, Astros Skuladottir, Asmundur Oddsson, Solvi Rognvaldsson, Gardar Sveinbjornsson, Sigrun H. Lund, Brynjar O. Jensson, Edda L. Styrmisdottir, Gisli H. Halldorsson, Egil Ferkingstad, Grimur Hjorleifsson Eldjarn, Doruk Beyter, Snædis Kristmundsdottir, Kristinn Juliusson, Run Fridriksdottir, Gudny A. Arnadottir, Hildigunnur Katrinardottir, Margret H. Snorradottir, Vinicius Tragante, Lilja Stefansdottir, Erna V. Ivarsdottir, Gyda Bjornsdottir, Bjarni V. Halldorsson, Gudmar Thorleifsson, Bjorn R. Ludviksson, Pall T. Onundarson, Saedis Saevarsdottir, Pall Melsted, Gudmundur L. Norddahl, Unnur S. Bjornsdottir, Thorunn Olafsdottir, Daniel F. Gudbjartsson, Unnur Thorsteinsdottir, Ingileif Jonsdottir, Patrick Sulem, Kari Stefansson
Published 2023-07-01
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