Varaico: Literature-Extracted Genetic Variants

Gene:WAS
Variant:p.D283N
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WAS

NM_000377.3:p.D283N

Associated Papers

Association of IgG4-related disease with human inborn errors of immunity.

Batani V et al.

Rheumatology (oxford, England), 2025

40569058 (PubMed )
Supplement: keaf353_supplementary_data.zip › keaf353_Supplementary_Data › rhe-24-2575-File009.pdf

Differences in genome, transcriptome, miRNAome, and methylome in synchronous and metachronous liver metastasis of colorectal cancer.

Horak J et al.

Frontiers in Oncology, 2023

37182133 (PubMed )
Supplement: DataSheet_1.zip › Supplementary_Table_S2.xlsx › Sheet1

Pathophysiologic and clinical implications of molecular profiles resultant from deletion 5q.

Adema V et al.

Ebiomedicine, 2022

35617825 (PubMed )
Supplement: mmc3.xlsx › Suppl_Table_3

A landscape of germ line mutations in a cohort of inherited bone marrow failure patients.

Bluteau O et al.

Blood, 2018

Spectrum of WAS gene mutations in Vietnamese patients with Wiskott-Aldrich syndrome.

Chuong HQ et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 0

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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."