Associated Papers
Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup.
Marconi C et al.
Haematologica, 2023
36519321 (PubMed )
Supplement: 2022_280993_MARCONI_TABS6_SUPPL.xlsx › Foglio1
GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis.
Megy K et al.
Journal of Thrombosis and Haemostasis : Jth, 2021
34355501 (PubMed )
Supplement: JTH-19-2612-s004.xlsx › ALL
Gene of the issue: GP1BA gene mutations associated with bleeding.
Othman M et al.
Platelets, 2017
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