wikimedia
/
wikidata
/
Login
Register
TriplyDB
Wikidata
Browser
Table
SPARQL
Graphs
1
1
Services
1
1
Assets
0
0
Insights
Schema
BETA
Class frequency
Class hierarchy
Q34506328-54189534-CEF9-43EA-83C0-A4384ECFDA65
Q34506328-54189534-CEF9-43EA-83C0-A4384ECFDA65
BestRank
Statement
http://www.wikidata.org/entity/statement/Q34506328-54189534-CEF9-43EA-83C0-A4384ECFDA65
Homozygosity mapping and whole exome sequencing reveal a novel homozygous COL18A1 mutation causing Knobloch syndrome.
P2860
Q34506328-54189534-CEF9-43EA-83C0-A4384ECFDA65
BestRank
Statement
http://www.wikidata.org/entity/statement/Q34506328-54189534-CEF9-43EA-83C0-A4384ECFDA65
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
5b449ba1c5a42a673dd81623bb1f335404e13dc8
P2860
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data