Varaico: Literature-Extracted Genetic Variants

Gene:WAS
Variant:p.A134V
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WAS

NM_000377.3:p.A134V

Associated Papers

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

Gaikwad P et al.

Journal of Clinical Immunology, 2024

The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.

Stefanucci L et al.

Blood, 2023

37647632 (PubMed )
Supplement: BLOOD_BLD-2023-020118-mmc3.xlsx › ST3.3

Long-term safety and efficacy of lentiviral hematopoietic stem/progenitor cell gene therapy for Wiskott-Aldrich syndrome.

Magnani A et al.

Nature Medicine, 2022

35075289 (PubMed )
Supplement: 41591_2021_1641_MOESM1_ESM.pdf

Autoimmunity in Wiskott-Aldrich Syndrome: Updated Perspectives.

Sudhakar M et al.

The Application of Clinical Genetics, 2021

Stem cell transplantation for the Wiskott-Aldrich syndrome: a single-center experience confirms efficacy of matched unrelated donor transplantation.

Pai SY et al.

Bone Marrow Transplantation, 2006

Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation.

Jin Y et al.

Blood, 2004

Impaired natural and CD16-mediated NK cell cytotoxicity in patients with WAS and XLT: ability of IL-2 to correct NK cell functional defect.

Gismondi A et al.

Blood, 2004

Mutations that cause the Wiskott-Aldrich syndrome impair the interaction of Wiskott-Aldrich syndrome protein (WASP) with WASP interacting protein.

Stewart DM et al.

Journal of Immunology (baltimore, Md. : 1950), 1999

Unrelated donor BMT for Wiskott-Aldrich syndrome.

Lenarsky C et al.

Bone Marrow Transplantation, 1993

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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."