Varaico: Literature-Extracted Genetic Variants

Gene:DDX41
Variant:p.V318L
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DDX41

NM_016222.4:p.V318L

Associated Papers

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

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

Mutational landscape of mucinous ovarian carcinoma and its neoplastic precursors.

Ryland GL et al.

Genome Medicine, 2015

26257827 (PubMed )
Supplement: 13073_2015_210_MOESM1_ESM.xlsx › Table_S3
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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."