Varaico: Literature-Extracted Genetic Variants

Gene:WAS
Variant:p.K245Splc
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WAS

NM_000377.3:p.K245Splc

Associated Papers

Immunogenetic investigation of WAS patients revealing impaired IL-6/STAT3 signaling in T cells.

Bouzakoura F et al.

Frontiers in Immunology, 2025

Screening for primary immunodeficiency diseases by next-generation sequencing in early life.

Sun J et al.

Clinical & Translational Immunology, 2020

32431812 (PubMed )
Supplement: CTI2-9-e1138-s001.xlsx › Sheet1

[Genetic screening in early diagnosis of neonatal WAS gene-related disorders].

Liu X et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2019

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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."