Varaico: Literature-Extracted Genetic Variants

Gene:LIG4
Variant:p.R278P
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LIG4

NM_206937.2:p.R278P

Associated Papers

Autoimmunity and immunodeficiency associated with monoallelic LIG4 mutations via haploinsufficiency.

Jauch AJ et al.

The Journal of Allergy and Clinical Immunology, 2023

Hypomorphic mutations in human DNA ligase IV lead to compromised DNA binding efficiency, hydrophobicity and thermal stability.

Maddi ER et al.

Protein Engineering, Design & Selection : Peds, 2021

Reprint of "The clinical impact of deficiency in DNA non-homologous end-joining".

Woodbine L et al.

Dna Repair, 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."