Varaico: Literature-Extracted Genetic Variants

Gene:GP1BB
Variant:p.E109insFs
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GP1BB

NM_000407.5:p.E109insFs

Associated Papers

Bernard-Soulier syndrome caused by two novel heterozygous GP1BA gene mutations: a case report and literature review.

Zhang S et al.

Hematology (amsterdam, Netherlands), 2024

A novel frameshift GP1BB mutation causes autosomal dominant macrothrombocytopenia with decreased vWF receptor expression but normal platelet aggregation.

Dunstan-Harrison C et al.

Platelets, 2022

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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."