Varaico: Literature-Extracted Genetic Variants

Gene:LIG4
Variant:p.L382fs
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LIG4

NM_206937.2:p.L382fs

Associated Papers

Autoimmunity and immunodeficiency associated with monoallelic LIG4 mutations via haploinsufficiency.

Jauch AJ et al.

The Journal of Allergy and Clinical Immunology, 2023

Valuable clinical indicators for identifying infantile-onset inflammatory bowel disease patients with monogenic diseases.

Su W et al.

World Journal of Gastroenterology, 2021

Characterization of a Cohort of Patients With LIG4 Deficiency Reveals the Founder Effect of p.R278L, Unique to the Chinese Population.

Luo X et al.

Frontiers in Immunology, 2021

LIG4 syndrome: clinical and molecular characterization in a Chinese cohort.

Sun B et al.

Orphanet Journal of Rare Diseases, 2020

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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."