Varaico: Literature-Extracted Genetic Variants

Gene:LIG4
Variant:p.S822L
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LIG4

NM_206937.2:p.S822L

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

Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Pritchard AL et al.

Plos One, 2018

29641532 (PubMed )
Supplement: pone.0194098.s003.xlsx › UK10K_DNArep

DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency.

O'Driscoll M et al.

Molecular Cell, 2001

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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."