Varaico: Literature-Extracted Genetic Variants

Gene:LIG1
Variant:p.A624T
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LIG1

NM_000234.3:p.A624T

Associated Papers

Computational studies on the functional and structural impact of pathogenic mutations in enzymes.

Dissanayake UC et al.

Protein Science : a Publication of the Protein Society, 2025

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

Severe Combined Immunodeficiency from a Homozygous DNA Ligase 1 Mutant with Reduced Catalytic Activity but Increased Ligation Fidelity.

Alajlan H et al.

Journal of Clinical Immunology, 2024

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