OC 65.3 Longread Nanopore Sequencing Reveal Novel Structural Variants in ITGB3, HPS5 and HPS3, Allowing Genetic Diagnosis of Glanzmann’s Thrombasthenia and Hermansky-Pudlak Syndrome in Four Unrelated Patients

A. Marin-Quilez, A. Zamora-Cánovas,B. de la morena-Barrio, C. Sierra Aisa, C. Male,J. Padilla,N. Fernández-Mosteirín, M. Trapero-Marugán, P. Gómez-González,M. de la Morena-Barrio, A. Sánchez-Fuentes, A. Rodríguez-Alén,N. Revilla,R. Benito, J. Bastida, M. Lozano,J. Corral, J. Rivera

Research and Practice in Thrombosis and Haemostasis（2023）

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genetic diagnosis,longread nanopore,reveal novel structural variants,itgb3,hermansky-pudlak

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