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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LIG3

Variant:p.R403Splc

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LIG3

NM_013975.4:p.R403Splc

hg38:chr17:34991956 A>G

Associated Papers

Novel Biallelic LIG3 Mutations Causing Lethal Phenotype With Immunodeficiency.

Kilich G et al.

American Journal of Medical Genetics. Part A, 2026

41741356 (PubMed )

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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."