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Q35005967-5881F6D8-BF10-42B6-8155-94023ADFFF15
Q35005967-5881F6D8-BF10-42B6-8155-94023ADFFF15
BestRank
Statement
http://www.wikidata.org/entity/statement/Q35005967-5881F6D8-BF10-42B6-8155-94023ADFFF15
CCBE1 mutation in two siblings, one manifesting lymphedema-cholestasis syndrome, and the other, fetal hydrops.
P2860
Q35005967-5881F6D8-BF10-42B6-8155-94023ADFFF15
BestRank
Statement
http://www.wikidata.org/entity/statement/Q35005967-5881F6D8-BF10-42B6-8155-94023ADFFF15
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
54480689c1ef6173e63c575b5c9d6bf1e10ba7e4
P2860
Bile acid-CoA ligase deficiency--a new inborn error of bile acid metabolism.