Varaico: Literature-Extracted Genetic Variants

Gene:NBEAL2
Variant:p.F646del1
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NBEAL2

NM_015175.3:p.F646del1

Associated Papers

Mutations in Neurobeachin-like 2 do not impact Weibel-Palade body biogenesis and von Willebrand factor secretion in gray platelet syndrome Endothelial Colony Forming Cells.

Kat M et al.

Research and Practice in Thrombosis and Haemostasis, 2023

Neutrophil specific granule and NETosis defects in gray platelet syndrome.

Aarts CEM et al.

Blood Advances, 2021

A Deep Dive into the Pathology of Gray Platelet Syndrome: New Insights on Immune Dysregulation.

Glembotsky AC et al.

Journal of Blood Medicine, 2021

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