Varaico: Literature-Extracted Genetic Variants

Gene:CEBPA
Variant:p.I68fs
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CEBPA

NM_004364.5:p.I68fs

Associated Papers

Clinical Manifestations and Ophthalmic Outcomes of Leukemic Retinopathy and Optic Neuropathy in Patients With Acute Leukemia.

Chen CY et al.

Investigative Ophthalmology & Visual Science, 2025

40747974 (PubMed )
Supplement: iovs-66-11-2_s002.xlsx › Table

Longitudinal ultra-sensitive mutation burden sequencing for precise minimal residual disease assessment in AML.

Wu Y et al.

Nature Communications, 2024

39543210 (PubMed )
Supplement: 41467_2024_54254_MOESM3_ESM.xlsx › Supplementary_Data_7

Development of a Tagmentation-Based Next-Generation Sequencing Clinical Assay as an Alternative to Capillary Electrophoresis-Based Sequencing.

Kuek WCD et al.

Molecular Genetics & Genomic Medicine, 2024

Aging and comprehensive molecular profiling in acute myeloid leukemia.

Li JF et al.

Proceedings of the National Academy of Sciences of the United States of America, 2024

38422020 (PubMed )
Supplement: pnas.2319366121.sd02.xlsx › Sheet_1

Identification of IKZF1 genetic mutations as new molecular subtypes in acute myeloid leukaemia.

Wang Y et al.

Clinical and Translational Medicine, 2023

37345307 (PubMed )
Supplement: CTM2-13-e1309-s003.xlsx › Table_1

Deep genomic characterization highlights complexities and prognostic markers of pediatric acute myeloid leukemia.

Cheng CK et al.

Communications Biology, 2023

37002311 (PubMed )
Supplement: 42003_2023_4732_MOESM5_ESM.xlsx › Supplementary_Data_2

Transcriptome-based molecular subtypes and differentiation hierarchies improve the classification framework of acute myeloid leukemia.

Cheng WY et al.

Proceedings of the National Academy of Sciences of the United States of America, 2022

36442087 (PubMed )
Supplement: pnas.2211429119.sd02.xlsx › snv_indel

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

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

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

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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."