Varaico: Literature-Extracted Genetic Variants

Gene:WAS
Variant:p.Q91_A92Splc
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WAS

NM_000377.3:p.Q91_A92Splc

Associated Papers

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

Gaikwad P et al.

Journal of Clinical Immunology, 2024

Identification of a novel WAS mutation and the non-splicing effect of a second-site mutation in a Chinese pedigree with Wiskott-Aldrich syndrome.

Ji X et al.

Orphanet Journal of Rare Diseases, 2022

Autoimmunity in Wiskott-Aldrich Syndrome: Updated Perspectives.

Sudhakar M et al.

The Application of Clinical Genetics, 2021

Characteristics and outcome of early-onset, severe forms of Wiskott-Aldrich syndrome.

Mahlaoui N et al.

Blood, 2013

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

Jin Y et al.

Blood, 2004

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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."