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
Q33911125-B1DF88D3-A379-4019-81D0-70FCDE24071D
Q33911125-B1DF88D3-A379-4019-81D0-70FCDE24071D
BestRank
Statement
http://www.wikidata.org/entity/statement/Q33911125-B1DF88D3-A379-4019-81D0-70FCDE24071D
A novel splice variant in the N-propeptide of COL5A1 causes an EDS phenotype with severe kyphoscoliosis and eye involvement.
P2860
Q33911125-B1DF88D3-A379-4019-81D0-70FCDE24071D
BestRank
Statement
http://www.wikidata.org/entity/statement/Q33911125-B1DF88D3-A379-4019-81D0-70FCDE24071D
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
0103a0614ae297537276f9be7f002076ceb6441e
P2860
Alu exonization events reveal features required for precise recognition of exons by the splicing machinery