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Identification By Longread Nanopore Sequencing of a Complex Structural Variant in ITGB3 with a Founder Effect Causing Glanzmann's Thrombasthenia in Two Unrelated Patients

Maria Luisa Lozano,Ana Zamora-Cánovas,Belen De La Morena-Barrio,Cristina Sierra,Christoph Male,Jose Padilla,Maria Eugenia de la Morena-Barrio,Veronica Palma-Barqueros,Ana Sánchez-Fuentes,Agustín Rodriguez-Alen,Ana Marín-Quílez,Nuria Revilla Calvo,Vicente Vicente,Jose Maria Bastida,Javier Corral,Jose Rivera Pozo

Blood（2022）

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关键词
longread nanopore,thrombasthenia,founder effect causing glanzmann
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