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
Q33894385-948A12A2-E8B0-4571-8A74-8121A850E0B0
Q33894385-948A12A2-E8B0-4571-8A74-8121A850E0B0
BestRank
Statement
http://www.wikidata.org/entity/statement/Q33894385-948A12A2-E8B0-4571-8A74-8121A850E0B0
Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1.
P2860
Q33894385-948A12A2-E8B0-4571-8A74-8121A850E0B0
BestRank
Statement
http://www.wikidata.org/entity/statement/Q33894385-948A12A2-E8B0-4571-8A74-8121A850E0B0
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
672abd0b2ac55d57355b3df7134700df9f083aa4
P2860
A novel mutation in EFNB1, probably with a dominant negative effect, underlying craniofrontonasal syndrome.