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Q50159971-261D09EF-4511-4DDA-8A85-5FFE83AED8E5
Q50159971-261D09EF-4511-4DDA-8A85-5FFE83AED8E5
BestRank
Statement
http://www.wikidata.org/entity/statement/Q50159971-261D09EF-4511-4DDA-8A85-5FFE83AED8E5
Novel UNC13D intronic variant disrupting a NFκB enhancer in a patient with recurrent macrophage activation syndrome and systemic juvenile idiopathic arthritis.
P2860
Q50159971-261D09EF-4511-4DDA-8A85-5FFE83AED8E5
BestRank
Statement
http://www.wikidata.org/entity/statement/Q50159971-261D09EF-4511-4DDA-8A85-5FFE83AED8E5
rank
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type
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wasDerivedFrom
890ab8eb969cf102a7bded57091da0bbecaa5e80
P2860
A Heterozygous RAB27A Mutation Associated with Delayed Cytolytic Granule Polarization and Hemophagocytic Lymphohistiocytosis.