Varaico: Literature-Extracted Genetic Variants

Gene:ARPC1B
Variant:p.P106delFs
Back to variants list

ARPC1B

NM_005720.4:p.P106delFs

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

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

Genetic Diagnosis of Inborn Errors of Immunity in an Emerging Country: a Retrospective Study of 216 Moroccan Patients.

Moundir A et al.

Journal of Clinical Immunology, 2023

T-cell defects in patients with ARPC1B germline mutations account for combined immunodeficiency.

Brigida I et al.

Blood, 2018

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."