Varaico: Literature-Extracted Genetic Variants

Gene:NBEAL2
Variant:p.L2408_V2409Splc
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NBEAL2

NM_015175.3:p.L2408_V2409Splc

Associated Papers

Unveiling the Gray: A Rare Case of Gray Platelet Syndrome With Hepatomegaly and Immune Dysregulation in a 14-Year-Old.

Takhman M et al.

Case Reports in Hematology, 2025

Syndromes predisposing to leukemia are a major cause of inherited cytopenias in children.

Gilad O et al.

Haematologica, 2022

A Deep Dive into the Pathology of Gray Platelet Syndrome: New Insights on Immune Dysregulation.

Glembotsky AC et al.

Journal of Blood Medicine, 2021

Gray platelet syndrome mimicking atypical autoimmune lymphoproliferative syndrome: the key is in the blood smear.

Steinberg-Shemer O et al.

Blood, 2018

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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."