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Long-read sequencing identifies the first retrotransposon insertion and resolves structural variants causing antithrombin deficiency

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Authors: Belén de la Morena-Barrio, Jonathan Stephens, María Eugenia de la Morena-Barrio, Luca Stefanucci, José Padilla, Antonia Miñano, Nicholas Gleadall, Juan Luis García, María Fernanda López-Fernández, Pierre-Emmanuel Morange, Marja Puurunen , Anetta Undas, Francisco Vidal, Frances Lucy Raymond, Vicente Vicente, Willem H. Ouwehand, Javier Corral, & Alba Sanchis-Juan
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  • Published on: January 1 2022
  • Source: Thrombosis and Haemostasis

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