Varaico: Literature-Extracted Genetic Variants

Gene:GFI1B
Variant:p.G272Splc
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GFI1B

NM_001377304.1:p.G272Splc

Associated Papers

A novel GFI1B mutation at the first zinc finger domain causes congenital macrothrombocytopenia.

Uchiyama Y et al.

British Journal of Haematology, 2018

GFI1B variants associated with thrombocytopenia.

Rabbolini DJ et al.

Platelets, 2017

Combined alpha-delta platelet storage pool deficiency is associated with mutations in GFI1B.

Ferreira CR et al.

Molecular Genetics and Metabolism, 2017

Functional characterization of a novel GFI1B mutation causing congenital macrothrombocytopenia.

Kitamura K et al.

Journal of Thrombosis and Haemostasis : Jth, 2016

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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."