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Q24314756-86346EE1-7FE7-49E2-B7F3-CFA09CC28EFA
Q24314756-86346EE1-7FE7-49E2-B7F3-CFA09CC28EFA
BestRank
Statement
http://www.wikidata.org/entity/statement/Q24314756-86346EE1-7FE7-49E2-B7F3-CFA09CC28EFA
IFAP syndrome is caused by deficiency in MBTPS2, an intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress response
P2860
Q24314756-86346EE1-7FE7-49E2-B7F3-CFA09CC28EFA
BestRank
Statement
http://www.wikidata.org/entity/statement/Q24314756-86346EE1-7FE7-49E2-B7F3-CFA09CC28EFA
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
f69d6ab667222faccd67b3cd9df8ca1edffec1be
P2860
Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hünermann syndrome