Varaico: Literature-Extracted Genetic Variants

Gene:ARPC1B
Variant:p.Q22Splc
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ARPC1B

NM_005720.4:p.Q22Splc

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

Autoimmune Lymphoproliferative Syndrome (ALPS) Disease and ALPS Phenotype: Are They Two Distinct Entities?

Palmisani E et al.

Hemasphere, 2023

Hematopoietic Stem Cell Transplantation in ARPC1B Deficiency.

Giardino S et al.

Journal of Clinical Immunology, 2022

Morphological profiling of human T and NK lymphocytes by high-content cell imaging.

German Y et al.

Cell Reports, 2021

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

Brigida I et al.

Blood, 2018

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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."