Varaico: Literature-Extracted Genetic Variants

Gene:GP1BA
Variant:p.L92delFs
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GP1BA

NM_000173.7:p.L92delFs

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

Whole exome sequencing in the diagnostic workup of patients with a bleeding diathesis.

Saes JL et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2019

Gene of the issue: GP1BA gene mutations associated with bleeding.

Othman M et al.

Platelets, 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."