Varaico: Literature-Extracted Genetic Variants

Gene:NBEAL2
Variant:p.M432_A433Splc
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NBEAL2

NM_015175.3:p.M432_A433Splc

Associated Papers

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."