Varaico: Literature-Extracted Genetic Variants

Gene:DDX41
Variant:p.R525S
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DDX41

NM_016222.4:p.R525S

Associated Papers

DDX41 haploinsufficiency causes inefficient hematopoiesis under stress and cooperates with p53 mutations to cause hematologic malignancy.

Stepanchick E et al.

Leukemia, 2024

38937548 (PubMed )
Supplement: 41375_2024_2304_MOESM2_ESM.xlsx › Sick_mouse__3

Spliceosomal factor mutations and mis-splicing in MDS.

Hershberger CE et al.

Best Practice & Research. Clinical Haematology, 2020

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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."