Varaico: Literature-Extracted Genetic Variants

Gene:GP1BB
Variant:p.R42fs
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GP1BB

NM_000407.5:p.R42fs

Associated Papers

Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia.

Sivapalaratnam S et al.

Blood, 2017

Spectrum of the mutations in Bernard-Soulier syndrome.

Savoia A et al.

Human Mutation, 2014

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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."