Varaico: Literature-Extracted Genetic Variants

Gene:LIG4
Variant:p.K449Q
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LIG4

NM_206937.2:p.K449Q

Associated Papers

Reducing Mortality and Morbidity in Children with Severe Combined Immunodeficiency in Switzerland: the Role of Newborn Screening.

Soomann M et al.

Journal of Clinical Immunology, 2024

Autoimmunity and immunodeficiency associated with monoallelic LIG4 mutations via haploinsufficiency.

Jauch AJ et al.

The Journal of Allergy and Clinical Immunology, 2023

Failing to Make Ends Meet: The Broad Clinical Spectrum of DNA Ligase IV Deficiency. Case Series and Review of the Literature.

Staines Boone AT et al.

Frontiers in Pediatrics, 2018

Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56bright NKG2A+++ Cells, and Yet Display Increased Degranulation and Higher Perforin Content.

Dobbs K et al.

Frontiers in Immunology, 2017

Ligase-4 Deficiency Causes Distinctive Immune Abnormalities in Asymptomatic Individuals.

Felgentreff K et al.

Journal of Clinical Immunology, 2016

DNA-PKcs Is Involved in Ig Class Switch Recombination in Human B Cells.

Björkman A et al.

Journal of Immunology (baltimore, Md. : 1950), 2015

Differential role of nonhomologous end joining factors in the generation, DNA damage response, and myeloid differentiation of human induced pluripotent stem cells.

Felgentreff K et al.

Proceedings of the National Academy of Sciences of the United States of America, 2014

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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."