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_TABS5_SUPPL.xlsx › Foglio1
An R307H substitution in GATA1 that prevents Ser310 phosphorylation causes severe fetal anemia.
Hetzer B et al.
Blood Advances, 2022
35580337 (PubMed )
Supplement: advancesADV2021006347-suppl2.xlsx › Tabelle1
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