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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NBEAL2

Variant:p.H2501Y

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NBEAL2

NM_015175.3:p.H2501Y

hg38:chr3:47007691 C>T

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

34408521 (PubMed )

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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."