Varaico: Literature-Extracted Genetic Variants

Gene:FLI1
Variant:p.R324W
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FLI1

NM_002017.5:p.R324W

Associated Papers

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

Gabinaud E et al.

Haematologica, 2025

Germ line ERG haploinsufficiency defines a new syndrome with cytopenia and hematological malignancy predisposition.

Zerella JR et al.

Blood, 2024

Transcription factor genetics and biology in predisposition to bone marrow failure and hematological malignancy.

Zerella JR et al.

Frontiers in Oncology, 2023

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

Structural Basis for Dimerization and DNA Binding of Transcription Factor FLI1.

Hou C et al.

Biochemistry, 2015

Paris-Trousseau thrombocytopenia is phenocopied by the autosomal recessive inheritance of a DNA-binding domain mutation in FLI1.

Stevenson WS et al.

Blood, 2015

Paris-Trousseau: evidence keeps pointing to FLI1.

Di Paola J

Blood, 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

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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."