Varaico: Literature-Extracted Genetic Variants

Gene:DDX41
Variant:p.F183I
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DDX41

NM_016222.4:p.F183I

Associated Papers

Myeloid neoplasms risks for germline DDX41 pathogenic variants carriers.

Villy MC et al.

European Journal of Human Genetics : Ejhg, 2025

Molecular taxonomy of myelodysplastic syndromes and its clinical implications.

Bernard E et al.

Blood, 2024

38958467 (PubMed )
Supplement: BLOOD_BLD-2023-023727-mmc1.xlsx › Table_S6__DDX41_

Current Understanding of DDX41 Mutations in Myeloid Neoplasms.

Kim K et al.

Cancers, 2023

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

New progress in the study of germline susceptibility genes of myeloid neoplasms.

Bi L et al.

Oncology Letters, 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

Insights into the Involvement of Spliceosomal Mutations in Myelodysplastic Disorders from Analysis of SACY-1/DDX41 in Caenorhabditis elegans.

Tsukamoto T et al.

Genetics, 2020

Myeloid neoplasms with germline DDX41 mutation.

Cheah JJC et al.

International Journal of Hematology, 2017

Structural and functional analyses of human DDX41 DEAD domain.

Jiang Y et al.

Protein & Cell, 2017

Structural and Functional Analysis of DDX41: a bispecific immune receptor for DNA and cyclic dinucleotide.

Omura H et al.

Scientific Reports, 2016

Inherited and Somatic Defects in DDX41 in Myeloid Neoplasms.

Polprasert C et al.

Cancer Cell, 2015

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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."