Varaico: Literature-Extracted Genetic Variants

Gene:WAS
Variant:p.G187Splc
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WAS

NM_000377.3:p.G187Splc

Associated Papers

Wiskott-Aldrich syndrome protein expression in female WAS carriers: A flow cytometry study from North India.

Basu S et al.

Pediatric Blood & Cancer, 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

Platelet actin nodules are podosome-like structures dependent on Wiskott-Aldrich syndrome protein and ARP2/3 complex.

Poulter NS et al.

Nature Communications, 2015

Impaired cell adhesion, apoptosis, and signaling in WASP gene-disrupted Nalm-6 pre-B cells and recovery of cell adhesion using a transducible form of WASp.

Sato R et al.

International Journal of Hematology, 2012

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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."