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Q47142837-0E6FE71E-FBFC-47ED-8A7F-54D3B1439593
Q47142837-0E6FE71E-FBFC-47ED-8A7F-54D3B1439593
BestRank
Statement
http://www.wikidata.org/entity/statement/Q47142837-0E6FE71E-FBFC-47ED-8A7F-54D3B1439593
A novel splice site variant in CYP11A1 in trans with the p.E314K variant in a male patient with congenital adrenal insufficiency.
P2093
Q47142837-0E6FE71E-FBFC-47ED-8A7F-54D3B1439593
BestRank
Statement
http://www.wikidata.org/entity/statement/Q47142837-0E6FE71E-FBFC-47ED-8A7F-54D3B1439593
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
bed9176fe8c91326cf49990f2009a2c091785ff6
P1545
2
http://www.w3.org/2001/XMLSchema#string
P2093
Alexander Perdomo-Pantoja
http://www.w3.org/2001/XMLSchema#string