Varaico: Literature-Extracted Genetic Variants

Gene:LIG4
Variant:p.S12Y
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LIG4

NM_206937.2:p.S12Y

Associated Papers

Neonatal erythroderma and immunodysplasia: Overlap of cartilage-hair hypoplasia and Omenn syndrome.

Insalaco A et al.

European Journal of Medical Genetics, 2026

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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."