Varaico: Literature-Extracted Genetic Variants

Gene:DDX41
Variant:p.V152G
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DDX41

NM_016222.4:p.V152G

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

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

Kusne Y et al.

British Journal of Haematology, 2025

Genome-first determination of the prevalence and penetrance of eight germline myeloid malignancy predisposition genes: a study of two population-based cohorts.

Hendricks RM et al.

Leukemia, 2025

Impaired binding affinity of YTHDC1 with METTL3/METTL14 results in R-loop accumulation in myelodysplastic neoplasms with DDX41 mutation.

Hwang WC et al.

Leukemia, 2024

DDX41: exploring the roles of a versatile helicase.

Winstone L et al.

Biochemical Society Transactions, 2024

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

Clinical and mechanistic insights into the roles of DDX41 in haematological malignancies.

Weinreb JT et al.

Febs Letters, 2022

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

Clinical implications and genetic features of clonal cytopenia of undetermined significance compared to lower-risk myelodysplastic syndrome.

Choi EJ et al.

British Journal of Haematology, 2022

Acquired somatic variants in inherited myeloid malignancies.

Armes H et al.

Leukemia, 2022

35140362 (PubMed )
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Unique ethnic features of DDX41 mutations in patients with idiopathic cytopenia of undetermined significance, myelodysplastic syndrome, or acute myeloid leukemia.

Choi EJ et al.

Haematologica, 2022

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

Andreou AZ

Biological Chemistry, 2021

Molecular and clinical features of myeloid neoplasms with somatic DDX41 mutations.

Qu S et al.

British Journal of Haematology, 2021

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

Wan Z et al.

Therapeutic Advances in Hematology, 2021

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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."