Varaico: Literature-Extracted Genetic Variants

Gene:LIG4
Variant:p.S12T
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LIG4

NM_206937.2:p.S12T

Associated Papers

Autoimmunity and immunodeficiency associated with monoallelic LIG4 mutations via haploinsufficiency.

Jauch AJ et al.

The Journal of Allergy and Clinical Immunology, 2023

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

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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."