Varaico: Literature-Extracted Genetic Variants

Gene:NBEAL2
Variant:p.L1501del1
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NBEAL2

NM_015175.3:p.L1501del1

Associated Papers

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

NBEAL2 mutations and bleeding in patients with gray platelet syndrome.

Pluthero FG et al.

Platelets, 2018

Gray platelet syndrome can mimic autoimmune lymphoproliferative syndrome.

Rensing-Ehl A et al.

Blood, 2015

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."