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Article

SRSF2-p95 hotspot mutation is highly associated with advanced forms of mastocytosis and mutations in epigenetic regulator genes.

Haematologica - 1 May 2014

Hanssens Katia, Brenet Fabienne, Agopian Julie, Georgin-Lavialle Sophie, Damaj Gandhi, Cabaret Laure, Chandesris Maria Olivia, de Sepulveda Paulo, Hermine Olivier, Dubreuil Patrice, Soucie Erinn

Abstract excerpt

Mastocytosis is a rare and chronic disease with phenotypes ranging from indolent to severe. Prognosis for this disease is variable and very few biomarkers to predict disease evolution or outcome are currently known. We have performed comprehensive screening in our large cohort of mastocytosis patients for mutations previously found in other myeloid diseases and that could serve as prognostic indicators. KIT,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 24389310
DOI: 10.3324/haematol.2013.095133
PMCID: PMC4008120

Genes

SRSF2
TET2
KIT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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