Varaico: Literature-Extracted Genetic Variants

Gene:CARMIL2
Variant:p.R385T
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CARMIL2

NM_001013838.3:p.R385T

Associated Papers

Epstein-Barr Virus-Associated Smooth Muscle Tumors in inborn Errors of Immunity: A single-center Case Series and Literature Overview.

Aliyeva G et al.

Journal of Clinical Immunology, 2025

Eczematoid lesions and extensive molluscum contagiosum in a child with novel CARMIL2 defect.

Loganathan SK et al.

Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2024

Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency.

Lévy R et al.

The Journal of Experimental Medicine, 2023

CARMIL2 Immunodeficiency with Epstein Barr Virus Associated Smooth Muscle Tumor (EBV-SMT). Report of a Case with Comprehensive Review of Literature.

Vij M et al.

Fetal and Pediatric Pathology, 2022

Genomics Driving Diagnosis and Treatment of Inborn Errors of Immunity With Cancer Predisposition.

Barmettler S et al.

The Journal of Allergy and Clinical Immunology. in Practice, 2022

Evolution and long-term outcomes of combined immunodeficiency due to CARMIL2 deficiency.

Kolukisa B et al.

Allergy, 2022

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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."