Varaico: Literature-Extracted Genetic Variants

Gene:LIG4
Variant:p.E427A
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LIG4

NM_206937.2:p.E427A

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

Structures of DNA-bound human ligase IV catalytic core reveal insights into substrate binding and catalysis.

Kaminski AM et al.

Nature Communications, 2018

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."