Varaico: Literature-Extracted Genetic Variants

Gene:LIG4
Variant:p.A11G
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LIG4

NM_206937.2:p.A11G

Associated Papers

Autoimmunity and immunodeficiency associated with monoallelic LIG4 mutations via haploinsufficiency.

Jauch AJ et al.

The Journal of Allergy and Clinical Immunology, 2023

Failing to Make Ends Meet: The Broad Clinical Spectrum of DNA Ligase IV Deficiency. Case Series and Review of the Literature.

Staines Boone AT et al.

Frontiers in Pediatrics, 2018

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