Varaico: Literature-Extracted Genetic Variants

Gene:DDX41
Variant:p.D140insFs
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DDX41

NM_016222.4:p.D140insFs

Associated Papers

Biallelic germline variants in the hematologic malignancy predisposition gene DDX41 cause retinal dystrophy through dysregulation of retinal homeostasis.

Mars Z et al.

Medrxiv : the Preprint Server for Health Sciences, 2026

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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."