Varaico: Literature-Extracted Genetic Variants

Gene:UNC13D
Variant:p.I848L
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UNC13D

NM_199242.3:p.I848L

Associated Papers

Hemophagocytic Lymphohistiocytosis Gene Variants in Severe COVID-19 Cytokine Storm Syndrome.

Kamath A et al.

Viruses, 2025

Functional role of UNC13D in immune diseases and its therapeutic applications.

Duong VT et al.

Frontiers in Immunology, 2024

Prevalence of Pathogenic and Potentially Pathogenic Inborn Error of Immunity Associated Variants in Children with Severe Sepsis.

Kernan KF et al.

Journal of Clinical Immunology, 2022

34973142 (PubMed )
Supplement: 10875_2021_1183_MOESM7_ESM.xlsx › data.and.gnomad.MAF.chi.sq.BH.c

Molecular Genetics Diversity of Primary Hemophagocytic Lymphohistiocytosis among Polish Pediatric Patients.

Bąbol-Pokora K et al.

Archivum Immunologiae Et Therapiae Experimentalis, 2021

Association of novel rare coding variants with juvenile idiopathic arthritis.

Meng X et al.

Annals of the Rheumatic Diseases, 2021

Autoimmune Cytopenias and Dysregulated Immunophenotype Act as Warning Signs of Inborn Errors of Immunity: Results From a Prospective Study.

Schiavo E et al.

Frontiers in Immunology, 2021

Adults with septic shock and extreme hyperferritinemia exhibit pathogenic immune variation.

Kernan KF et al.

Genes and Immunity, 2019

Variations of the UNC13D gene in patients with autoimmune lymphoproliferative syndrome.

Aricò M et al.

Plos One, 2013

Macrophage activation syndrome in patients with systemic juvenile idiopathic arthritis is associated with MUNC13-4 polymorphisms.

Zhang K et al.

Arthritis and Rheumatism, 2008

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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."