Varaico: Literature-Extracted Genetic Variants

Gene:NBEAL2
Variant:p.I682F
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NBEAL2

NM_015175.3:p.I682F

Associated Papers

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

Delage L et al.

Nature Communications, 2023

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

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."