Varaico: Literature-Extracted Genetic Variants

Gene:LIG1
Variant:p.R305Q
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LIG1

NM_000234.3:p.R305Q

Associated Papers

Rare variants of DNA ligase 1 show distinct mechanisms of deficiency.

Veenstra JH et al.

The Journal of Biological Chemistry, 2024

Mechanistic Basis for a Single Amino Acid Residue Mutation Causing Human DNA Ligase 1 Deficiency, A Rare Pediatric Disease.

Zalenski N et al.

Journal of Molecular Biology, 2024

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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."