We report rare monoallelic variants of that alter intracellular trafficking and diminish thrombopoietin secretion. Affected cases have autosomal-dominant thrombocytopenia but no other hematological features.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7065488PMC
http://dx.doi.org/10.1182/bloodadvances.2019001293DOI Listing

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