Varaico: Literature-Extracted Genetic Variants

Gene:ARPC1B
Variant:p.Q22*
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ARPC1B

NM_005720.4:p.Q22*

Associated Papers

Molecular analysis and immunological characterization of a founder mutation causing ARPC1B deficiency.

Dobrose MM et al.

Genes and Immunity, 2025

The c.64 + 2 T > A Founder Variant Hits Home: Report on 14 Patients Expands the Phenotypic Landscape of Inherited ARPC1B Deficiency - a Comparative Analysis.

Bhattarai D et al.

Clinical Reviews in Allergy & Immunology, 2025

Recurrent eosinophilia with a novel homozygous ARPC1B mutation.

Sonmez G et al.

Frontiers of Medicine, 2025

Is Your Kid Actin Out? A Series of Six Patients With Inherited Actin-Related Protein 2/3 Complex Subunit 1B Deficiency and Review of the Literature.

Vásquez-Echeverri E et al.

The Journal of Allergy and Clinical Immunology. in Practice, 2023

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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."