Varaico: Literature-Extracted Genetic Variants

Gene:LIG1
Variant:p.G259Splc
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LIG1

NM_000234.3:p.G259Splc

Associated Papers

Overrepresentation of Germline Immune-Related Gene Variants in Patients with Acquired Bone Marrow Failure.

Pinc Z et al.

Journal of Clinical Immunology, 2025

41188636 (PubMed )
Supplement: 10875_2025_1951_MOESM1_ESM.xlsx › Table_S5_final

Expanding the Phenotype of DNA Ligase 1 Deficiency: First Report of Macrocytic Sideroblastic Anemia.

Jiang D et al.

American Journal of Hematology, 2025

Case report: Severe combined immunodeficiency with ligase 1 deficiency and Omenn-like manifestation.

Dabrowska-Leonik N et al.

Frontiers in Immunology, 2022

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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."