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Rare inherited thrombocytopenias are caused by alterations in genes involved in megakaryopoiesis, thrombopoiesis and/or platelet release. Diagnosis is challenging due to poor specificity of platelet laboratory assays, large numbers of… Click to show full abstract
Rare inherited thrombocytopenias are caused by alterations in genes involved in megakaryopoiesis, thrombopoiesis and/or platelet release. Diagnosis is challenging due to poor specificity of platelet laboratory assays, large numbers of culprit genes, and difficult assessment of the pathogenicity of novel variants.
Keywords:
nonsense variant;
caused dominant;
tpm4 caused;
variant tpm4;
novel nonsense;
dominant macrothrombocytopenia
Journal Title: Journal of Thrombosis and Haemostasis
Year Published: 2022
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Journal Title: Journal of Thrombosis and Haemostasis
Year Published: 2022
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!