Varaico: Literature-Extracted Genetic Variants

Gene:GP1BB
Variant:p.P29L
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GP1BB

NM_000407.5:p.P29L

Associated Papers

Spectrum of the mutations in Bernard-Soulier syndrome.

Savoia A et al.

Human Mutation, 2014

Quaternary organization of GPIb-IX complex and insights into Bernard-Soulier syndrome revealed by the structures of GPIbβ and a GPIbβ/GPIX chimera.

McEwan PA et al.

Blood, 2011

Bernard-Soulier syndrome: novel nonsense mutation in GPIbbeta gene affecting GPIb-IX complex expression.

Hadjkacem B et al.

Annals of Hematology, 2009

Synthesis of GPIb beta with novel transmembrane and cytoplasmic sequences in a Bernard-Soulier patient resulting in GPIb-defective signaling in CHO cells.

Strassel C et al.

Journal of Thrombosis and Haemostasis : Jth, 2006

A novel hemizygous Bernard-Soulier Syndrome (BSS) mutation in the amino terminal domain of glycoprotein (GP)Ibbeta--platelet characterization and transfection studies.

Hillmann A et al.

Thrombosis and Haemostasis, 2002

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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."