Varaico: Literature-Extracted Genetic Variants

Gene:GP1BB
Variant:p.W148delFs
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GP1BB

NM_000407.5:p.W148delFs

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

Spectrum of the mutations in Bernard-Soulier syndrome.

Savoia A et al.

Human Mutation, 2014

Molecular genetic analysis of a variant Bernard-Soulier syndrome due to compound heterozygosity for two novel glycoprotein Ibbeta mutations.

Kunishima S et al.

European Journal of Haematology, 2006

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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."