Varaico: Literature-Extracted Genetic Variants

Gene:DDX41
Variant:p.S363del1
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DDX41

NM_016222.4:p.S363del1

Associated Papers

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

Tiong IS et al.

Leukemia, 2026

Moving Beyond Somatic Alterations: Uncovering the Germline Basis of Myeloid Malignancies.

Elbaz Younes I et al.

Cancers, 2026

Clinical and Molecular Spectrum of DDX41 Variants in Korean Patients with Hematologic Malignancies.

Kim B et al.

Journal of Clinical Medicine, 2025

Myeloid neoplasms risks for germline DDX41 pathogenic variants carriers.

Villy MC et al.

European Journal of Human Genetics : Ejhg, 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

DDX41-associated susceptibility to myeloid neoplasms.

Makishima H et al.

Blood, 2023

Germ line DDX41 mutations define a unique subtype of myeloid neoplasms.

Makishima H et al.

Blood, 2023

Current Understanding of DDX41 Mutations in Myeloid Neoplasms.

Kim K et al.

Cancers, 2023

Hereditary predisposition to malignant myeloid hemopathies: Caution in use of saliva and guideline based on our experience.

Perani A et al.

Frontiers in Oncology, 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

Prognostic impact of DDX41 germline mutations in intensively treated acute myeloid leukemia patients: an ALFA-FILO study.

Duployez N et al.

Blood, 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

A novel bi-alleleic DDX41 mutations in B-cell lymphoblastic leukemia: case report.

Shin WY et al.

Bmc Medical Genomics, 2022

DDX41: a multifunctional DEAD-box protein involved in pre-mRNA splicing and innate immunity.

Andreou AZ

Biological Chemistry, 2021

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

Myeloid neoplasms with germline DDX41 mutation.

Cheah JJC et al.

International Journal of Hematology, 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."