Varaico: Literature-Extracted Genetic Variants

Gene:GFI1B
Variant:p.H294insFs
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GFI1B

NM_001377304.1:p.H294insFs

Associated Papers

Growth factor independent 1B is a metabolic regulator that exerts pleiotropic effects on platelet function.

Morel-Kopp MC et al.

Journal of Thrombosis and Haemostasis : Jth, 2025

GFI1B variants associated with thrombocytopenia.

Rabbolini DJ et al.

Platelets, 2017

Hematopoietic transcription factor mutations: important players in inherited platelet defects.

Songdej N et al.

Blood, 2017

Inherited platelet dysfunction and hematopoietic transcription factor mutations.

Songdej N et al.

Platelets, 2017

Functional characterization of a novel GFI1B mutation causing congenital macrothrombocytopenia.

Kitamura K et al.

Journal of Thrombosis and Haemostasis : Jth, 2016

Progress in understanding the diagnosis and molecular genetics of macrothrombocytopenias.

Favier R et al.

British Journal of Haematology, 2015

Hematopoietic transcription factor mutations and inherited platelet dysfunction.

Songdej N et al.

F1000prime Reports, 2015

GFI1B mutation causes a bleeding disorder with abnormal platelet function.

Stevenson WS et al.

Journal of Thrombosis and Haemostasis : Jth, 2013

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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."