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Q50159971-34932A6E-C2EA-4C8C-8414-AA5FB9FC056F
Q50159971-34932A6E-C2EA-4C8C-8414-AA5FB9FC056F
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http://www.wikidata.org/entity/statement/Q50159971-34932A6E-C2EA-4C8C-8414-AA5FB9FC056F
Novel UNC13D intronic variant disrupting a NFκB enhancer in a patient with recurrent macrophage activation syndrome and systemic juvenile idiopathic arthritis.
P2860
Q50159971-34932A6E-C2EA-4C8C-8414-AA5FB9FC056F
BestRank
Statement
http://www.wikidata.org/entity/statement/Q50159971-34932A6E-C2EA-4C8C-8414-AA5FB9FC056F
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wasDerivedFrom
890ab8eb969cf102a7bded57091da0bbecaa5e80
P2860
Novel deep intronic and missense UNC13D mutations in familial haemophagocytic lymphohistiocytosis type 3.