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Q33399198-C29CCE5C-3D40-48D6-AF11-12899F695965
Q33399198-C29CCE5C-3D40-48D6-AF11-12899F695965
BestRank
Statement
http://www.wikidata.org/entity/statement/Q33399198-C29CCE5C-3D40-48D6-AF11-12899F695965
A prevalent C3 mutation in aHUS patients causes a direct C3 convertase gain of function.
P2860
Q33399198-C29CCE5C-3D40-48D6-AF11-12899F695965
BestRank
Statement
http://www.wikidata.org/entity/statement/Q33399198-C29CCE5C-3D40-48D6-AF11-12899F695965
rank
NormalRank
type
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Statement
wasDerivedFrom
982fdea8687824bf75ced73bfe1ae11fd5c8030a
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.