Varaico: Literature-Extracted Genetic Variants

Gene:GP1BB
Variant:p.P27S
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GP1BB

NM_000407.5:p.P27S

Associated Papers

Bernard-Soulier Syndrome: Identification of a Novel GP1BB Variant in a Mauritanian Patient.

Salem ML et al.

Molecular Genetics & Genomic Medicine, 2026

Biological, clinical features and modelling of heterozygous variants of glycoprotein Ib platelet subunit alpha (GP1BA) and glycoprotein Ib platelet subunit beta (GP1BB) genes responsible for constitutional thrombocytopenia.

Dib F et al.

British Journal of Haematology, 2022

A Sardinian founder mutation in glycoprotein Ib platelet subunit beta (GP1BB) that impacts thrombocytopenia.

Busonero F et al.

British Journal of Haematology, 2020

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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."