Varaico: Literature-Extracted Genetic Variants

Gene:SRSF2
Variant:p.P96L
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SRSF2

NM_001195427.2:p.P96L

Associated Papers

A single nucleotide polymorphism in the TCL1A promoter is not protective in patients with germ line RUNX1-FPD.

Kajdic A et al.

Blood Neoplasia, 2025

41127867 (PubMed )
Supplement: BNEO_NEO-2025-000690-mmc1.pdf

SFX-01 is therapeutic against myeloproliferative disorders caused by activating mutations in Shp2.

Cho HJ et al.

Embo Molecular Medicine, 2025

Unidirectional association of clonal hematopoiesis with atherosclerosis development.

Díez-Díez M et al.

Nature Medicine, 2024

39215150 (PubMed )
Supplement: 41591_2024_3213_MOESM1_ESM.pdf

Capture-based targeted sequencing using a T-cell control in myeloid malignancies and idiopathic cytopenias.

Pietka G et al.

British Journal of Haematology, 2024

Genomic landscape of patients with germline RUNX1 variants and familial platelet disorder with myeloid malignancy.

Yu K et al.

Blood Advances, 2024

38019014 (PubMed )
Supplement: BLOODA_ADV-2023-011165-mmc2.xlsx › Somatic_Mutations

Interaction between myelodysplasia-related gene mutations and ontogeny in acute myeloid leukemia.

McCarter JGW et al.

Blood Advances, 2023

37142255 (PubMed )
Supplement: BLOODA_ADV-2023-009675-mmc1.xlsx › supplemental_Table_2-Mutations

Leukocytes carrying Clonal Hematopoiesis of Indeterminate Potential (CHIP) Mutations invade Human Atherosclerotic Plaques.

von Scheidt M et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

37546840 (PubMed )
Supplement: media-1.pdf

Postazacitidine clone size predicts long-term outcome of patients with myelodysplastic syndromes and related myeloid neoplasms.

Nannya Y et al.

Blood Advances, 2023

36989067 (PubMed )
Supplement: BLOODA_ADV-2022-009564-mmc2.xlsx › SuppTable2

Evolutionary landscape of clonal hematopoiesis in 3,359 individuals from the general population.

van Zeventer IA et al.

Cancer Cell, 2023

Heterogeneous disease-propagating stem cells in juvenile myelomonocytic leukemia.

Louka E et al.

The Journal of Experimental Medicine, 2021

33416891 (PubMed )
Supplement: JEM_20180853_TableS1.xlsx › Clincal___Hematologic_Data

Identification of two novel mutations in human acute myeloid leukemia cases.

O'Brien G et al.

Leukemia & Lymphoma, 2021

Prevalence and clinical implications of germline predisposition gene mutations in patients with acute myeloid leukemia.

Kim B et al.

Scientific Reports, 2020

32868804 (PubMed )
Supplement: 41598_2020_71386_MOESM1_ESM.pdf

Response to 5-azacytidine in a patient with TET2-mutated angioimmunoblastic T-cell lymphoma and chronic myelomonocytic leukaemia preceded by an EBV-positive large B-cell lymphoma.

Saillard C et al.

Hematological Oncology, 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."