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Q47142837-9FF83A6E-1B85-42EE-8E80-B676C3B82FED
Q47142837-9FF83A6E-1B85-42EE-8E80-B676C3B82FED
BestRank
Statement
http://www.wikidata.org/entity/statement/Q47142837-9FF83A6E-1B85-42EE-8E80-B676C3B82FED
A novel splice site variant in CYP11A1 in trans with the p.E314K variant in a male patient with congenital adrenal insufficiency.
P2860
Q47142837-9FF83A6E-1B85-42EE-8E80-B676C3B82FED
BestRank
Statement
http://www.wikidata.org/entity/statement/Q47142837-9FF83A6E-1B85-42EE-8E80-B676C3B82FED
rank
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type
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wasDerivedFrom
a3de5814afa79e9830a70016472235684ac7a760
P2860
P450 side-chain cleavage deficiency--a rare cause of congenital adrenal hyperplasia.