Varaico: Literature-Extracted Genetic Variants

Gene:GP1BA
Variant:p.L78R
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GP1BA

NM_000173.7:p.L78R

Associated Papers

Bernard-Soulier Syndrome: A Review of Epidemiology, Molecular Pathology, Clinical Features, Laboratory Diagnosis, and Therapeutic Management.

Kaya Z

Seminars in Thrombosis and Hemostasis, 2025

Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia.

Sivapalaratnam S et al.

Blood, 2017

Spectrum of the mutations in Bernard-Soulier syndrome.

Savoia A et al.

Human Mutation, 2014

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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."