Varaico: Literature-Extracted Genetic Variants

Gene:DDX41
Variant:p.K494E
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DDX41

NM_016222.4:p.K494E

Associated Papers

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

38514771 (PubMed )
Supplement: 41375_2024_2228_MOESM1_ESM.docx

The clinical and genomic landscape of patients with DDX41 variants identified during diagnostic sequencing.

Maierhofer A et al.

Blood Advances, 2023

37874914 (PubMed )
Supplement: BLOODA_ADV-2023-011389-mmc1.xlsx › Table_S3

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

Makishima H et al.

Blood, 2023

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
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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."