Varaico: Literature-Extracted Genetic Variants

Gene:LIG4
Variant:p.K424R
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LIG4

NM_206937.2:p.K424R

Associated Papers

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

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

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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."