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
Q58762918-3A5D32FB-DB27-44B2-A3D3-AE3EC3DD0FC1
Q58762918-3A5D32FB-DB27-44B2-A3D3-AE3EC3DD0FC1
BestRank
Statement
http://www.wikidata.org/entity/statement/Q58762918-3A5D32FB-DB27-44B2-A3D3-AE3EC3DD0FC1
Aberrant Splicing Is the Pathogenicity Mechanism of the p.Glu314Lys Variant in Gene
P2860
Q58762918-3A5D32FB-DB27-44B2-A3D3-AE3EC3DD0FC1
BestRank
Statement
http://www.wikidata.org/entity/statement/Q58762918-3A5D32FB-DB27-44B2-A3D3-AE3EC3DD0FC1
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
84e517253d0ba27a25b1d6b6186cfa983b7a8789
P2860
A novel splice site variant in CYP11A1 in trans with the p.E314K variant in a male patient with congenital adrenal insufficiency.