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
Q34535941-013F6AEE-0D8E-4B3C-8ABB-1CDBAE6A8CA4
Q34535941-013F6AEE-0D8E-4B3C-8ABB-1CDBAE6A8CA4
BestRank
Statement
http://www.wikidata.org/entity/statement/Q34535941-013F6AEE-0D8E-4B3C-8ABB-1CDBAE6A8CA4
Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA).
P2860
Q34535941-013F6AEE-0D8E-4B3C-8ABB-1CDBAE6A8CA4
BestRank
Statement
http://www.wikidata.org/entity/statement/Q34535941-013F6AEE-0D8E-4B3C-8ABB-1CDBAE6A8CA4
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
6757309ddee604d78565f428ba192e2c7a492e5a
P2860
Mitochondrial encephalomyopathies: an update.