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Q35190461-29E3B833-EC87-44B5-94EB-3641E91591EA
Q35190461-29E3B833-EC87-44B5-94EB-3641E91591EA
BestRank
Statement
http://www.wikidata.org/entity/statement/Q35190461-29E3B833-EC87-44B5-94EB-3641E91591EA
Immunological loss-of-function due to genetic gain-of-function in humans: autosomal dominance of the third kind
P2860
Q35190461-29E3B833-EC87-44B5-94EB-3641E91591EA
BestRank
Statement
http://www.wikidata.org/entity/statement/Q35190461-29E3B833-EC87-44B5-94EB-3641E91591EA
rank
NormalRank
type
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Statement
wasDerivedFrom
1201c68a6ad82ad9d220823a2d1baed3f3d68291
P2860
A large family with a gain-of-function mutation of complement C3 predisposing to atypical hemolytic uremic syndrome, microhematuria, hypertension and chronic renal failure.