Varaico: Literature-Extracted Genetic Variants

Gene:NBEAL2
Variant:p.M432_A433Splc
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NBEAL2

NM_015175.3:p.M432_A433Splc

Associated Papers

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

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

NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules.

Gunay-Aygun M 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."