Varaico: Literature-Extracted Genetic Variants

Gene:WAS
Variant:p.W252*
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WAS

NM_000377.3:p.W252*

Associated Papers

A Cohort Study of 38 Classic Wiskott-Aldrich Syndrome Cases with Six Novel Mutations.

Razaghian A et al.

Journal of Clinical Immunology, 2026

Advancing Newborn Screening in Washington State: A Novel Multiplexed LC-MS/MS Proteomic Assay for Wilson Disease and Inborn Errors of Immunity.

Klippel C et al.

International Journal of Neonatal Screening, 2025

39846592 (PubMed )
Supplement: IJNS-11-00006-s001.zip › IJNS-3344349-supplementary.pdf

Wiskott-Aldrich Syndrome: A Report of a Rare X-Linked Disorder.

Patil MG et al.

Cureus, 2024

Investigating the Variation of TREC/KREC in Combined Immunodeficiencies.

Shakerian L et al.

Iranian Journal of Allergy, Asthma, and Immunology, 2021

Multiplexed Proteomic Analysis for Diagnosis and Screening of Five Primary Immunodeficiency Disorders From Dried Blood Spots.

Collins CJ et al.

Frontiers in Immunology, 2020

Rapid Multiplexed Proteomic Screening for Primary Immunodeficiency Disorders From Dried Blood Spots.

Collins CJ et al.

Frontiers in Immunology, 2018

Altered BCR and TLR signals promote enhanced positive selection of autoreactive transitional B cells in Wiskott-Aldrich syndrome.

Kolhatkar NS et al.

The Journal of Experimental Medicine, 2015

26371186 (PubMed )
Supplement: supp_jem.20150585_JEM_20150585_sm.pdf

A novel mutation W252X in the WAS gene in a Korean patient with Wiskott-Aldrich syndrome.

Kim HJ et al.

International Journal of Hematology, 2006

Indispensability of transmembrane domains of Golgi UDP-galactose transporter as revealed by analysis of genetic defects in UDP-galactose transporter-deficient murine had-1 mutant cell lines and construction of deletion mutants.

Ishida N et al.

Journal of Biochemistry, 1999

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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."