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
Q24681239-6A588EFD-33E3-4F4E-B1AB-64C97D8615EF
Q24681239-6A588EFD-33E3-4F4E-B1AB-64C97D8615EF
BestRank
Statement
http://www.wikidata.org/entity/statement/Q24681239-6A588EFD-33E3-4F4E-B1AB-64C97D8615EF
Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder
P2860
Q24681239-6A588EFD-33E3-4F4E-B1AB-64C97D8615EF
BestRank
Statement
http://www.wikidata.org/entity/statement/Q24681239-6A588EFD-33E3-4F4E-B1AB-64C97D8615EF
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
126b9eed7238e72ddec257f0d6c79700f1f30efd
P2860
Structurally abnormal type II collagen in a severe form of Kniest dysplasia caused by an exon 24 skipping mutation