Varaico: Literature-Extracted Genetic Variants

Gene:CEBPA
Variant:p.P23fs
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CEBPA

NM_004364.5:p.P23fs

Associated Papers

Clinical experience of using integrated whole genome and transcriptome sequencing as a framework for pediatric and adolescent acute myeloid leukemia diagnosis and risk assessment.

Voss RK et al.

Leukemia, 2025

41057686 (PubMed )
Supplement: 41375_2025_2774_MOESM2_ESM.xlsx › S9___Molecular_Classification

A Comprehensive Guide to Achieving New York State Clinical Laboratory Evaluation Program Approval for Next-Generation Sequencing Assays.

Galbo PM et al.

The Journal of Molecular Diagnostics : Jmd, 2025

40158885 (PubMed )
Supplement: mmc9.xlsx › Sheet1

Sporadic and Familial Acute Myeloid Leukemia with CEBPA Mutations.

Yuan J et al.

Current Hematologic Malignancy Reports, 2023

Clinical and molecular response of acute myeloid leukemia harboring non-canonical FLT3 N676K driver mutations to contemporary FLT3 inhibitors.

Roloff GW et al.

Haematologica, 2023

36655425 (PubMed )
Supplement: 2022_282148_ROLOFF_SUPPL.pdf

Acquired somatic variants in inherited myeloid malignancies.

Armes H et al.

Leukemia, 2022

35140362 (PubMed )
Supplement: 41375_2022_1515_MOESM3_ESM.xlsx › Somatic_variants

SmMIP-tools: a computational toolset for processing and analysis of single-molecule molecular inversion probes-derived data.

Medeiros JJF et al.

Bioinformatics (oxford, England), 2022

35150236 (PubMed )
Supplement: btac081_supplementary_data.zip › Table_S4.xlsx › Clinically_reported_Indels

Networking for advanced molecular diagnosis in acute myeloid leukemia patients is possible: the PETHEMA NGS-AML project

Sargas C et al.

Haematologica, 2021

33179471 (PubMed )
Supplement: 2020_263806_SARGAS_SUPPL.pdf

Clinical significance of chromatin-spliceosome acute myeloid leukemia: a report from the Northern Italy Leukemia Group (NILG) randomized trial 02/06.

Caprioli C et al.

Haematologica, 2021

32855275 (PubMed )
Supplement: 2020_252825_CAPRIOLI_SUPPL.pdf

Performances of Targeted RNA Sequencing for the Analysis of Fusion Transcripts, Gene Mutation, and Expression in Hematological Malignancies.

Hayette S et al.

Hemasphere, 2021

33880432 (PubMed )
Supplement: hs9-5-e522-s003.pdf

Companion gene mutations and their clinical significance in AML with double mutant CEBPA.

Zhang Y et al.

Cancer Gene Therapy, 2020

The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants.

Rio-Machin A et al.

Nature Communications, 2020

32098966 (PubMed )
Supplement: 41467_2020_14829_MOESM5_ESM.xlsx › ST_2_Group_1_families

Assessment of the clinical utility of four NGS panels in myeloid malignancies. Suggestions for NGS panel choice or design.

Aguilera-Diaz A et al.

Plos One, 2020

CEBPA-double-mutated acute myeloid leukemia displays a unique phenotypic profile: a reliable screening method and insight into biological features.

Mannelli F et al.

Haematologica, 2017

28250006 (PubMed )
Supplement: 2016.151910.MANNELLI_SUPPL.pdf
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