Varaico: Literature-Extracted Genetic Variants

Gene:NBEAL2
Variant:p.E643V
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NBEAL2

NM_015175.3:p.E643V

Associated Papers

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

Delage L et al.

Nature Communications, 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

Correction of Severe Myelofibrosis, Impaired Platelet Functions and Abnormalities in a Patient with Gray Platelet Syndrome Successfully Treated by Stem Cell Transplantation.

Favier R et al.

Platelets, 2020

NBEAL2 mutations and bleeding in patients with gray platelet syndrome.

Pluthero FG et al.

Platelets, 2018

Should any genetic defect affecting α-granules in platelets be classified as gray platelet syndrome?

Nurden AT et al.

American Journal of Hematology, 2016

Congenital platelet disorders and understanding of platelet function.

Nurden AT et al.

British Journal of Haematology, 2014

Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome.

Albers CA et al.

Nature Genetics, 2011

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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."