Varaico: Literature-Extracted Genetic Variants

Gene:NBEAL2
Variant:p.Q1753*
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NBEAL2

NM_015175.3:p.Q1753*

Associated Papers

Gray Platelet Syndrome in a Neonate With VACTERL Association: A Novel Homozygous Pathogenic Variant c.5257C>T in the NBEAL2 Gene.

Alasmari BG et al.

Cureus, 2023

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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."