Varaico: Literature-Extracted Genetic Variants

Gene:GP9
Variant:p.T172I
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GP9

NM_000174.5:p.T172I

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

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

Othman M et al.

Platelets, 2017

Clinical and laboratory features of 103 patients from 42 Italian families with inherited thrombocytopenia derived from the monoallelic Ala156Val mutation of GPIbα (Bolzano mutation).

Noris P et al.

Haematologica, 2012

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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."