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Long-Read Sequencing Identifies the First Retrotransposon Insertion and Resolves Structural Variants Causing Antithrombin Deficiency.
de la Morena-Barrio B, Stephens J, de la Morena-Barrio ME, Stefanucci L, Padilla J, Miñano A, Gleadall N, García JL, López-Fernández MF, Morange PE, Puurunen M, Undas A, Vidal F, Raymond FL, Vicente V, Ouwehand WH, Corral J, Sanchis-Juan A; NIHR BioResource. de la Morena-Barrio B, et al. Thromb Haemost. 2022 Aug;122(8):1369-1378. doi: 10.1055/s-0042-1749345. Epub 2022 Jun 28. Thromb Haemost. 2022. PMID: 35764313 Free PMC article.