Varaico: Literature-Extracted Genetic Variants

Gene:WAS
Variant:p.Q146*
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WAS

NM_000377.3:p.Q146*

Associated Papers

When WAS Gene Diagnosis Is Needed: Seeking Clues Through Comparison Between Patients With Wiskott-Aldrich Syndrome and Idiopathic Thrombocytopenic Purpura.

Jin YY et al.

Frontiers in Immunology, 2019

SUMOylation-disrupting WAS mutation converts WASp from a transcriptional activator to a repressor of NF-κB response genes in T cells.

Sarkar K et al.

Blood, 2015

Spectrum of WAS gene mutations in Vietnamese patients with Wiskott-Aldrich syndrome.

Chuong HQ et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 0

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