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Q47142837-B9EE3DE0-1F4E-4059-8095-10F26D193703
Q47142837-B9EE3DE0-1F4E-4059-8095-10F26D193703
BestRank
Statement
http://www.wikidata.org/entity/statement/Q47142837-B9EE3DE0-1F4E-4059-8095-10F26D193703
A novel splice site variant in CYP11A1 in trans with the p.E314K variant in a male patient with congenital adrenal insufficiency.
P50
Q47142837-B9EE3DE0-1F4E-4059-8095-10F26D193703
BestRank
Statement
http://www.wikidata.org/entity/statement/Q47142837-B9EE3DE0-1F4E-4059-8095-10F26D193703
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
bed9176fe8c91326cf49990f2009a2c091785ff6
P1545
6
http://www.w3.org/2001/XMLSchema#string
P50
Paldeep S Atwal