Varaico: Literature-Extracted Genetic Variants

Gene:GFI1B
Variant:p.H294fs
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GFI1B

NM_001377304.1:p.H294fs

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

Molecular mechanisms of bleeding disorderassociated GFI1BQ287* mutation and its affected pathways in megakaryocytes and platelets.

van Oorschot R et al.

Haematologica, 2019

Thrombocytopenia and CD34 expression is decoupled from α-granule deficiency with mutation of the first growth factor-independent 1B zinc finger.

Rabbolini DJ et al.

Journal of Thrombosis and Haemostasis : Jth, 2017

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

Should any genetic defect affecting α-granules in platelets be classified as gray platelet syndrome?

Nurden AT et al.

American Journal of Hematology, 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."