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Article

Unveiling splicing disruptions due to common somatic variants in acute myeloid leukemia.

Human genomics - 4 Nov 2025

Morote-Faubel Mireya, Guaita-Céspedes María, Fernández-Blanco Beatriz, Martínez-Valiente Cristina, Ibáñez Mariam, Santiago-Balsera Marta, Such Esperanza, de la Rubia Javier, Liquori Alessandro, Cervera José

Abstract excerpt

Acute Myeloid Leukemia (AML) is a genetically and clonally heterogeneous blood malignancy characterized by somatic gene mutations influencing disease biology. Despite advances in genomic analyses, splicing alterations associated with AML mutations remain underexplored. In this study, we systematically analyzed 914 single nucleotide variants previously found in 1540 AML patients and integrated DNA and RNA...

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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: 41189001
DOI: 10.1186/s40246-025-00842-6
PMCID: PMC12584550

Genes

ASXL1
FLT3
IDH1
U2AF1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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