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Q38144090-339344FC-1DA0-4E03-861E-D089F14DAA2A
Q38144090-339344FC-1DA0-4E03-861E-D089F14DAA2A
BestRank
Statement
http://www.wikidata.org/entity/statement/Q38144090-339344FC-1DA0-4E03-861E-D089F14DAA2A
Gene hunting in autoinflammation.
P2860
Q38144090-339344FC-1DA0-4E03-861E-D089F14DAA2A
BestRank
Statement
http://www.wikidata.org/entity/statement/Q38144090-339344FC-1DA0-4E03-861E-D089F14DAA2A
rank
NormalRank
type
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wasDerivedFrom
fd8de51bf22818e6bb2b17061048d6968f16b5b6
P2860
A hypermorphic missense mutation in PLCG2, encoding phospholipase Cγ2, causes a dominantly inherited autoinflammatory disease with immunodeficiency.