Varaico: Literature-Extracted Genetic Variants

Gene:LIG4
Variant:p.K588del1
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LIG4

NM_206937.2:p.K588del1

Associated Papers

Autoimmunity and immunodeficiency associated with monoallelic LIG4 mutations via haploinsufficiency.

Jauch AJ et al.

The Journal of Allergy and Clinical Immunology, 2023

Allogeneic hematopoietic stem cell transplantation in two brothers with DNA ligase IV deficiency: a case report and review of the literature.

Schober S et al.

Bmc Pediatrics, 2019

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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