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2
Q35858526-8BFF0BAE-FDBF-400E-9274-2A644FBD2225
Q35858526-8BFF0BAE-FDBF-400E-9274-2A644FBD2225
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http://www.wikidata.org/entity/statement/Q35858526-8BFF0BAE-FDBF-400E-9274-2A644FBD2225
Late-onset severe chronic active EBV in a patient for five years with mutations in STXBP2 (MUNC18-2) and PRF1 (perforin 1).
P2860
Q35858526-8BFF0BAE-FDBF-400E-9274-2A644FBD2225
BestRank
Statement
http://www.wikidata.org/entity/statement/Q35858526-8BFF0BAE-FDBF-400E-9274-2A644FBD2225
rank
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type
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wasDerivedFrom
03885b1d829353f8cdedc36519f35359a0fed5a5
P2860
Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells