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Article

A clinical grade sequencing-based assay for CEBPA mutation testing: report of a large series of myeloid neoplasms.

The Journal of molecular diagnostics : JMD - 1 Jan 2015

Behdad Amir, Weigelin Helmut C, Elenitoba-Johnson Kojo S J, Betz Bryan L

Abstract excerpt

Diagnostic testing for CEBPA mutations is the standard of care for cytogenetically normal acute myeloid leukemia. Widespread implementation of this testing is hampered by technical challenges associated with the GC content of the gene, the variability of the mutations, and the complexity of the sequence analysis and variant interpretation. We developed a robust Sanger-sequencing test to detect CEBPA mutations in...

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Source

Identifiers

PMID: 25468431
DOI: 10.1016/j.jmoldx.2014.09.007

Genes

FLT3
NPM1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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