Varaico: Literature-Extracted Genetic Variants

Gene:GP1BB
Variant:p.L60P
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GP1BB

NM_000407.5:p.L60P

Associated Papers

Clinical and Genetic Characterization of 269 Patients With Suspected Inherited Platelet Disorders: The Padua Monocentric Experience.

Ferrari S et al.

International Journal of Laboratory Hematology, 2026

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

GP1BB c.179C > T is the most frequent cause of monoallelic Bernard-Soulier syndrome in the Italian population after the Bolzano variant: a report of two new families.

Barozzi S et al.

Annals of Hematology, 2023

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."