Varaico: Literature-Extracted Genetic Variants

Gene:FLI1
Variant:p.K345E
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FLI1

NM_002017.5:p.K345E

Associated Papers

Characterization of a novel FLI1 mutation in a family with thrombocytopenia and other congenital malformations.

Ammeti D et al.

Haematologica, 2025

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

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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."