Varaico: Literature-Extracted Genetic Variants

Gene:DDX41
Variant:p.Y151H
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DDX41

NM_016222.4:p.Y151H

Associated Papers

Neurological Phenotypes of SOCS1 Haploinsufficiency: Insights from Functional and Histological Investigations.

Palmeri S et al.

Journal of Clinical Immunology, 2025

41249727 (PubMed )
Supplement: 10875_2025_1958_MOESM1_ESM.docx

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

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
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