Varaico: Literature-Extracted Genetic Variants

Gene:FLI1
Variant:p.R337W
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FLI1

NM_002017.5:p.R337W

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

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

What is the role of genetic testing in the investigation of patients with suspected platelet function disorders?

Daly ME et al.

British Journal of Haematology, 2014

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."