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Published in 2018 at "Blood"
DOI: 10.1182/blood-2017-12-820274
Abstract: GPS (MIM 139090) is an autosomal recessive disorder associated with macrothrombocytopenia, splenomegaly, myelofibrosis, heterogeneous bleeding, and defective platelet a-granules.2 The gene mutated inGPS encodes the neurobeachinlike 2 (Nbeal2) protein, which is 1 of 9 Beige…
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Keywords:
beachcombing granules;
chediak higashi;