Varaico: Literature-Extracted Genetic Variants

Gene:GFI1B
Variant:p.T174I
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GFI1B

NM_001377304.1:p.T174I

Associated Papers

Clinical and laboratory aspects of patients diagnosed with various inherited platelet disorders.

Gök V et al.

Research and Practice in Thrombosis and Haemostasis, 2025

GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis.

Megy K et al.

Journal of Thrombosis and Haemostasis : Jth, 2021

34355501 (PubMed )
Supplement: JTH-19-2612-s004.xlsx › ALL

A novel homozygous GFI1B variant in 2 sisters with thrombocytopenia and severe bleeding tendency.

Brøns N et al.

Platelets, 2021

Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts.

Cirulli ET et al.

Nature Communications, 2020

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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."