Varaico: Literature-Extracted Genetic Variants

Gene:ARPC1B
Variant:p.P288delFs
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ARPC1B

NM_005720.4:p.P288delFs

Associated Papers

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

Dobrose MM et al.

Genes and Immunity, 2025

Recurrent eosinophilia with a novel homozygous ARPC1B mutation.

Sonmez G et al.

Frontiers of Medicine, 2025

Description of a Novel Pathogenic Variant in the ARPC1B and a Severe Allergy in Two Infants.

Zaveleta Martínez O et al.

Iranian Journal of Allergy, Asthma, and Immunology, 2024

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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."