Published in Hum Genome Var on July 27, 2017
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Double heterozygosity for mutations in the platelet glycoprotein IX gene in three siblings with Bernard-Soulier syndrome. Blood (1993) 0.90
Variant Bernard-Soulier syndrome due to homozygous Asn45Ser mutation in the platelet glycoprotein (GP) IX in seven patients of five unrelated Finnish families. Eur J Haematol (1999) 0.84
A common ancestral glycoprotein (GP) 9 1828A>G (Asn45Ser) gene mutation occurring in European families from Australia and Northern Europe with Bernard-Soulier Syndrome (BSS). Thromb Haemost (2005) 0.83
A point mutation in glycoprotein IX coding sequence (Cys73 (TGT) to Tyr(TAT)) causes impaired surface expression of GPIb/IX/V complex in two families with Bernard-Soulier syndrome. Thromb Haemost (1996) 0.83
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Biosynthetic defect in platelet glycoprotein IX mutants associated with Bernard-Soulier syndrome. Blood (1996) 0.81
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Exon skipping causes atypical phenotypes associated with a loss-of-function mutation in FLNA by restoring its protein function. Eur J Hum Genet (2015) 0.96
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Linkage between the mechanisms of thrombocytopenia and thrombopoiesis. Blood (2016) 0.79
TUBB1 mutation disrupting microtubule assembly impairs proplatelet formation and results in congenital macrothrombocytopenia. Eur J Haematol (2014) 0.79
Rhof promotes murine marginal zone B cell development. Nagoya J Med Sci (2014) 0.78
Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes. Genet Med (2017) 0.78
Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia. Blood (2016) 0.77
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Successful immunostaining demonstrates abnormal intracytoplasmic MYH9 protein (NMMHC-IIA) in neutrophils of a dog with May-Hegglin anomaly. Vet Clin Pathol (2011) 0.75
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Diagnostic biomarker for ACTN1 macrothrombocytopenia. Blood (2015) 0.75
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Successful management of perioperative hemostasis in a patient with Glanzmann thrombasthenia who underwent a right total mastectomy. Int J Hematol (2016) 0.75