Varaico: Literature-Extracted Genetic Variants

Gene:NBEAL2
Variant:p.L2646P
Back to variants list

NBEAL2

NM_015175.3:p.L2646P

Associated Papers

NBEAL2 deficiency in humans leads to low CTLA-4 expression in activated conventional T cells.

Delage L et al.

Nature Communications, 2023

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

Generation and characterization of a human iPSC line SANi006-A from a Gray Platelet Syndrome patient.

Aarts CEM et al.

Stem Cell Research, 2021

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."