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  4. Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup
 
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Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup

Journal
Haematologica-The Hematology Journal
Author(s)
Caterina Marconi
Alessandro Pecci
Flavia Palombo
Federica Melazzini
Bottega Roberta 
Elena Nardi
Valeria Bozzi
Faleschini Michela 
Serena Barozzi
Tania Giangregorio
Pamela Magini
Carlo L Balduini
Savoia Anna 
Marco Seri
Patrizia Noris
Tommaso Pippucci
DOI
10.3324/haematol.2022.280993
Project(s)
Molecular screening of Inherited Thrombocytopenias and developmental of gene specific functional assays for the characterization of pathogenetic variants: models for the study of THPO, TUBB1, ACTN1 and GFI1B mutations 
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C.A.R.S.O. - I.R.C.C.S. materno infantile Burlo Garofolo

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