Varaico: Literature-Extracted Genetic Variants

Gene:FLI1
Variant:p.R337Q
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FLI1

NM_002017.5:p.R337Q

Associated Papers

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

Ammeti D et al.

Haematologica, 2025

Accurate affinity models for SH2 domains from peptide binding assays and free-energy regression.

Gagoski D et al.

Protein Science : a Publication of the Protein Society, 2025

41088778 (PubMed )
Supplement: PRO-34-e70317-s008.xlsx › _S6_-_PTMVar_-_Fyn

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

Gabinaud E et al.

Haematologica, 2025

Accurate sequence-to-affinity models for SH2 domains from multi-round peptide binding assays coupled with free-energy regression.

Gagoski D et al.

Biorxiv : the Preprint Server for Biology, 2025

39764007 (PubMed )
Supplement: media-1.xlsx › _S6_-_PTMVar_-_Fyn

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

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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."