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Q47142837-8A138667-B7D7-4FC2-ABBA-E319667FAF2D
Q47142837-8A138667-B7D7-4FC2-ABBA-E319667FAF2D
BestRank
Statement
http://www.wikidata.org/entity/statement/Q47142837-8A138667-B7D7-4FC2-ABBA-E319667FAF2D
A novel splice site variant in CYP11A1 in trans with the p.E314K variant in a male patient with congenital adrenal insufficiency.
P2860
Q47142837-8A138667-B7D7-4FC2-ABBA-E319667FAF2D
BestRank
Statement
http://www.wikidata.org/entity/statement/Q47142837-8A138667-B7D7-4FC2-ABBA-E319667FAF2D
rank
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type
BestRank
Statement
wasDerivedFrom
a3de5814afa79e9830a70016472235684ac7a760
P2860
Role of the steroidogenic acute regulatory protein in health and disease.