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
Q24318493-FE355389-9B51-4FAC-9E82-AC05EBB8E2DD
Q24318493-FE355389-9B51-4FAC-9E82-AC05EBB8E2DD
BestRank
Statement
http://www.wikidata.org/entity/statement/Q24318493-FE355389-9B51-4FAC-9E82-AC05EBB8E2DD
A point mutation in an intronic branch site results in aberrant splicing of COL5A1 and in Ehlers-Danlos syndrome type II in two British families
P2860
Q24318493-FE355389-9B51-4FAC-9E82-AC05EBB8E2DD
BestRank
Statement
http://www.wikidata.org/entity/statement/Q24318493-FE355389-9B51-4FAC-9E82-AC05EBB8E2DD
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
39012c5449c34de8fc10bbbb80f1525fe46514d4
P2860
Defects in RNA splicing and the consequence of shortened translational reading frames.