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
Q28262263-92DCD162-341E-43B7-BF6E-90F3AC866999
Q28262263-92DCD162-341E-43B7-BF6E-90F3AC866999
BestRank
Statement
http://www.wikidata.org/entity/statement/Q28262263-92DCD162-341E-43B7-BF6E-90F3AC866999
Structurally abnormal type II collagen in a severe form of Kniest dysplasia caused by an exon 24 skipping mutation
P2860
Q28262263-92DCD162-341E-43B7-BF6E-90F3AC866999
BestRank
Statement
http://www.wikidata.org/entity/statement/Q28262263-92DCD162-341E-43B7-BF6E-90F3AC866999
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
31bb0ef2b065fd598fd471825dd589e373ccc185
P2860
A single amino acid substitution (G103D) in the type II collagen triple helix produces Kniest dysplasia.