Associated Papers
Synonymous and non-synonymous variants at splice junctions can disrupt splicing and are frequently linked to disease associated loss of function genes.
Srinivasan S et al.
Bmc Genomics, 2025
41436921 (PubMed )
Supplement: 12864_2025_12466_MOESM15_ESM.pdf
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
Hematopoietic Stem Cell Transplantation in ARPC1B Deficiency.
Giardino S et al.
Journal of Clinical Immunology, 2022
Case Report: A Novel Synonymous ARPC1B Gene Mutation Causes a Syndrome of Combined Immunodeficiency, Asthma, and Allergy With Significant Intrafamilial Clinical Heterogeneity.
Papadatou I et al.
Frontiers in Immunology, 2021
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