Varaico: Literature-Extracted Genetic Variants

Gene:FLI1
Variant:p.N331fs
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FLI1

NM_002017.5:p.N331fs

Associated Papers

FLI1 and GATA1 govern TLN1 transcription: new insights into FLI1-related platelet disorders.

Gabinaud E et al.

Haematologica, 2025

Macrothrombocytopenia and dense granule deficiency associated with FLI1 variants: ultrastructural and pathogenic features.

Saultier P et al.

Haematologica, 2017

Molecular basis of inherited thrombocytopenias: an update.

Savoia A

Current Opinion in Hematology, 2016

Progress in understanding the diagnosis and molecular genetics of macrothrombocytopenias.

Favier R et al.

British Journal of Haematology, 2015

Jacobsen syndrome: Advances in our knowledge of phenotype and genotype.

Favier R et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2015

Enrichment of FLI1 and RUNX1 mutations in families with excessive bleeding and platelet dense granule secretion defects.

Stockley J et al.

Blood, 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."