Varaico: Literature-Extracted Genetic Variants

Gene:DDX41
Variant:p.P499insFs
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DDX41

NM_016222.4:p.P499insFs

Associated Papers

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

Kim B et al.

Journal of Clinical Medicine, 2025

41303035 (PubMed )
Supplement: jcm-14-07999-s001.zip › jcm-3893505-supplementary.pdf

Overall cancer risk in people with deleterious germline DDX41 variants.

Korotev SC et al.

Haematologica, 2025

Diamond-Blackfan anemia syndrome in an adult with RPS19 and DDX41 variants successfully treated with allogeneic stem cell transplantation: a case report.

Gosho K et al.

Leukemia & Lymphoma, 2025

A molecular glue RBM39-degrader induces synthetic lethality in cancer cells with homologous recombination repair deficiency.

Kohsaka S et al.

Npj Precision Oncology, 2024

38789724 (PubMed )
Supplement: 41698_2024_610_MOESM3_ESM.xlsx › Supplementary_Data_2

Genomic testing for germline predisposition to hematologic malignancies.

Hwang SM

Blood Research, 2024

Germline predisposition to myeloid neoplasms: Characteristics and management of high versus variable penetrance disorders.

Trottier AM et al.

Best Practice & Research. Clinical Haematology, 2024

Allogeneic Hematopoietic Stem Cell Transplantation for Acute Myeloid Leukemia With a Germline DDX41 Mutation.

Yoshida S et al.

Case Reports in Hematology, 2024

DDX41 germline variants causing donor cell leukemia indicate a need for further genetic workup in the context of hematopoietic stem cell transplantation.

Rolles B et al.

Blood Cancer Journal, 2023

DDX41-associated susceptibility to myeloid neoplasms.

Makishima H et al.

Blood, 2023

Impact of gene alterations on clinical outcome in young adults with myelodysplastic syndromes.

Konishi T et al.

Scientific Reports, 2023

36788335 (PubMed )
Supplement: 41598_2023_29794_MOESM2_ESM.xlsx › Supplementary_Table_2

Current Understanding of DDX41 Mutations in Myeloid Neoplasms.

Kim K et al.

Cancers, 2023

Genetics of Myelodysplastic Syndromes.

Saygin C et al.

Cancers, 2021

Archival bone marrow smears are useful in targeted next-generation sequencing for diagnosing myeloid neoplasms.

Sadato D et al.

Plos One, 2021

Prevalence and clinical implications of germline predisposition gene mutations in patients with acute myeloid leukemia.

Kim B et al.

Scientific Reports, 2020

Targeted next generation sequencing can serve as an alternative to conventional tests in myeloid neoplasms.

Kim B et al.

Plos One, 2019

Donor cell leukemia arising from preleukemic clones with a novel germline DDX41 mutation after allogenic hematopoietic stem cell transplantation.

Kobayashi S et al.

Leukemia, 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."