Varaico: Literature-Extracted Genetic Variants

Gene:WAS
Variant:p.Q20*
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WAS

NM_000377.3:p.Q20*

Associated Papers

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

Reversion Mosaicism in Primary Immunodeficiency Diseases.

Miyazawa H et al.

Frontiers in Immunology, 2021

In vivo reversion of an inherited mutation in a Chinese patient with Wiskott-Aldrich syndrome.

Xie JW et al.

Human Immunology, 2015

Genetic characteristics of eighty-seven patients with the Wiskott-Aldrich syndrome.

Gulácsy V et al.

Molecular Immunology, 2011

Revertant somatic mosaicism in the Wiskott-Aldrich syndrome.

Davis BR et al.

Immunologic Research, 2009

Multiple independent second-site mutations in two siblings with somatic mosaicism for Wiskott-Aldrich syndrome.

Boztug K et al.

Clinical Genetics, 2008

Protein assays for diagnosis of Wiskott-Aldrich syndrome and X-linked thrombocytopenia.

Qasim W et al.

British Journal of Haematology, 2001

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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."