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_TABS4_SUPPL.xlsx › Foglio1
ETV6-related thrombocytopenia: dominant negative effect of mutations as common pathogenic mechanism.
Faleschini M et al.
Haematologica, 2022
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