Varaico: Literature-Extracted Genetic Variants

Gene:WAS
Variant:p.L435delFs
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WAS

NM_000377.3:p.L435delFs

Associated Papers

Gene editing-based targeted integration for correction of Wiskott-Aldrich syndrome.

Pille M et al.

Molecular Therapy. Methods & Clinical Development, 2024

Gene Correction of iPSCs from a Wiskott-Aldrich Syndrome Patient Normalizes the Lymphoid Developmental and Functional Defects.

Laskowski TJ et al.

Stem Cell Reports, 2016

Evolution of highly polymorphic T cell populations in siblings with the Wiskott-Aldrich Syndrome.

Lutskiy MI et al.

Plos One, 2008

Two novel mutations of Wiskott-Aldrich syndrome: the molecular prediction of interaction between the mutated WASP L101P with WASP-interacting protein by molecular modeling.

Kim MK et al.

Biochimica Et Biophysica Acta, 2004

Wiskott-Aldrich syndrome/X-linked thrombocytopenia: WASP gene mutations, protein expression, and phenotype.

Zhu Q et al.

Blood, 1997

The Wiskott-Aldrich syndrome and X-linked congenital thrombocytopenia are caused by mutations of the same gene.

Zhu Q et al.

Blood, 1995

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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."