Varaico: Literature-Extracted Genetic Variants

Gene:NBEAL2
Variant:p.H418delFs
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NBEAL2

NM_015175.3:p.H418delFs

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

Abnormal proplatelet formation and emperipolesis in cultured human megakaryocytes from gray platelet syndrome patients.

Di Buduo CA et al.

Scientific Reports, 2016

Correlation between platelet phenotype and NBEAL2 genotype in patients with congenital thrombocytopenia and α-granule deficiency.

Bottega R et al.

Haematologica, 2013

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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."