Associated Papers
Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare disease.
Malhotra A et al.
Hgg Advances, 2025
40195116 (PubMed )
Supplement: mmc1.xlsx › Multiple_molecular_diagnoses
A Deep Dive into the Pathology of Gray Platelet Syndrome: New Insights on Immune Dysregulation.
Glembotsky AC et al.
Journal of Blood Medicine, 2021
NBEAL2 mutations and bleeding in patients with gray platelet syndrome.
Pluthero FG et al.
Platelets, 2018
NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules.
Gunay-Aygun M et al.
Nature Genetics, 2011
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