Lethal Alleles
Immunodeficiency Diseases
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Updated: Feb 28, 2026

In Vivo Modeling of the Morbid Human Genome using Danio rerio
Published on: August 24, 2013
Gonench Kilich1, Tanaya Jadhav2, Kelly Maurer1
1Division of Allergy Immunology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Researchers identified novel LIG3 gene variants in a child with severe neurological and developmental issues. This finding expands the known LIG3 deficiency phenotype to include immune and endocrine problems.
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