Varaico: Literature-Extracted Genetic Variants

Gene:DDX41
Variant:p.R479Q
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DDX41

NM_016222.4:p.R479Q

Associated Papers

Refinement of the classification of DDX41 variants through analysis of aggregated clinical datasets.

Tiong IS et al.

Leukemia, 2026

Prevalence of cytopenia(s) and somatic variants in patients with DDX41 mutant germline predisposition syndrome.

Kusne Y et al.

British Journal of Haematology, 2025

Evaluation of the pathogenic potential of germline DDX41 variants in hematopoietic neoplasms using the ACMG/AMP guidelines.

Matsui H et al.

International Journal of Hematology, 2024

The clinical and genomic landscape of patients with DDX41 variants identified during diagnostic sequencing.

Maierhofer A et al.

Blood Advances, 2023

37874914 (PubMed )
Supplement: BLOODA_ADV-2023-011389-mmc1.xlsx › Table_S3

Clinical and molecular correlates of somatic and germline DDX41 variants in patients and families with myeloid neoplasms.

Badar T et al.

Haematologica, 2023

Biallelic disruption of DDX41 activity is associated with distinct genomic and immunophenotypic hallmarks in acute leukemia.

Tierens A et al.

Frontiers in Oncology, 2023

Germline and Somatic Defects in DDX41 and its Impact on Myeloid Neoplasms.

Badar T et al.

Current Hematologic Malignancy Reports, 2022

DDX41: the poster child for familial AML.

Rio-Machin A et al.

Blood, 2022

Acquired somatic variants in inherited myeloid malignancies.

Armes H et al.

Leukemia, 2022

35140362 (PubMed )
Supplement: 41375_2022_1515_MOESM4_ESM.xlsx › Sheet1

Clinical features of DDX41 mutation-related diseases: a systematic review with individual patient data.

Wan Z et al.

Therapeutic Advances in Hematology, 2021

34349893 (PubMed )
Supplement: sj-xlsx-3-tah-10.1177_20406207211032433.xlsx › Table_S2

Germline DDX41 mutations define a significant entity within adult MDS/AML patients.

Sébert M et al.

Blood, 2019

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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."