Novel variant in RAG2, identified through data mining, is linked to rare forms of primary immunodeficiencies
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Asset Subtitle
Presenting Author - Irina St Louis, PhD;
Meta Tag
Bioinformatics
Databases
Identification of Disease Genes
Structure/Function
Variant Detection
Presenting Author Irina St Louis, PhD
Keywords
RAG2 gene
variant
primary immunodeficiencies
mutations
zinc-finger motif
deleterious effect
severe combined immunodeficiency
pathogenic
protein structure
protein function

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