awgldk
/
wikidata
/
Login
Register
TriplyDB
Wikidata
Browser
Table
SPARQL
Graphs
1
1
Services
1
1
Assets
0
0
Insights
Schema
BETA
Class frequency
Class hierarchy
Q47142837-44ABC769-0E46-4B35-BA59-E59F5E4375F8
Q47142837-44ABC769-0E46-4B35-BA59-E59F5E4375F8
BestRank
Statement
http://www.wikidata.org/entity/statement/Q47142837-44ABC769-0E46-4B35-BA59-E59F5E4375F8
A novel splice site variant in CYP11A1 in trans with the p.E314K variant in a male patient with congenital adrenal insufficiency.
P2860
Q47142837-44ABC769-0E46-4B35-BA59-E59F5E4375F8
BestRank
Statement
http://www.wikidata.org/entity/statement/Q47142837-44ABC769-0E46-4B35-BA59-E59F5E4375F8
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
e9c01156860e9536c2a2ad7163aefffd8c2d7889
P2860
First case report of rare congenital adrenal insufficiency caused by mutations in the CYP11A1 gene in the Czech Republic.