Varaico: Literature-Extracted Genetic Variants

Gene:ARPC1B
Variant:p.W131Splc
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ARPC1B

NM_005720.4:p.W131Splc

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

The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.

Stefanucci L et al.

Blood, 2023

37647632 (PubMed )
Supplement: BLOOD_BLD-2023-020118-mmc3.xlsx › ST3.3

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

2020 CIS Annual Meeting: Immune Deficiency & Dysregulation North American Conference.

Unknown Author

Journal of Clinical Immunology, 2020

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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."