Varaico: Literature-Extracted Genetic Variants

Gene:LIG4
Variant:p.R871H
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LIG4

NM_206937.2:p.R871H

Associated Papers

Autoimmunity and immunodeficiency associated with monoallelic LIG4 mutations via haploinsufficiency.

Jauch AJ et al.

The Journal of Allergy and Clinical Immunology, 2023

Whole exome sequencing in unclassified autoinflammatory diseases: more monogenic diseases in the pipeline?

Kosukcu C et al.

Rheumatology (oxford, England), 2021

Primary Immunodeficiency Disease Mimicking Pediatric Bechet's Disease.

Shiraki M et al.

Children (basel, Switzerland), 2021

Characterization of a Cohort of Patients With LIG4 Deficiency Reveals the Founder Effect of p.R278L, Unique to the Chinese Population.

Luo X et al.

Frontiers in Immunology, 2021

A Novel Missense LIG4 Mutation in a Patient With a Phenotype Mimicking Behçet's Disease.

Taskiran EZ et al.

Journal of Clinical Immunology, 2019

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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."