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Q47142837-357527F0-7A49-4ABC-BA7A-AD85BF6F970A
Q47142837-357527F0-7A49-4ABC-BA7A-AD85BF6F970A
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http://www.wikidata.org/entity/statement/Q47142837-357527F0-7A49-4ABC-BA7A-AD85BF6F970A
A novel splice site variant in CYP11A1 in trans with the p.E314K variant in a male patient with congenital adrenal insufficiency.
P2860
Q47142837-357527F0-7A49-4ABC-BA7A-AD85BF6F970A
BestRank
Statement
http://www.wikidata.org/entity/statement/Q47142837-357527F0-7A49-4ABC-BA7A-AD85BF6F970A
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wasDerivedFrom
a3de5814afa79e9830a70016472235684ac7a760
P2860
Delayed diagnosis of adrenal insufficiency in a patient with severe penoscrotal hypospadias due to two novel P450 side-change cleavage enzyme (CYP11A1) mutations (p.R360W; p.R405X)