Varaico: Literature-Extracted Genetic Variants

Gene:WAS
Variant:p.L44_T45Splc
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WAS

NM_000377.3:p.L44_T45Splc

Associated Papers

Mutational Landscape of Patients with Wiskott Aldrich Syndrome: Update from India.

Gaikwad P et al.

Journal of Clinical Immunology, 2024

A Non-targeted Proteomics Newborn Screening Platform for Inborn Errors of Immunity.

Shibata H et al.

Journal of Clinical Immunology, 2024

Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity.

Chan KW et al.

Frontiers in Immunology, 2022

[Clinical features and genotype analysis of 132 patients with Wiskott-Aldrich syndrome].

Li W et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2015

[Analysis of prenatal diagnosis for seven high-risk fetuses with Wiskott-Aldrich syndrome].

Zhao Q et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2012

Analysis of clinical and molecular characteristics of Wiskott-Aldrich syndrome in 24 patients from 23 unrelated Chinese families.

Zhang ZY et al.

Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2010

Clinical and molecular characteristics of 35 Chinese children with Wiskott-Aldrich syndrome.

Lee PP et al.

Journal of Clinical Immunology, 2009

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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."