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
Q35643208-F03A964E-2537-4E50-A5E2-D4C3CF6E7601
Q35643208-F03A964E-2537-4E50-A5E2-D4C3CF6E7601
BestRank
Statement
http://www.wikidata.org/entity/statement/Q35643208-F03A964E-2537-4E50-A5E2-D4C3CF6E7601
Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase: exon skipping, insertion of duplicate sequence, and missense mutations leading to the deficiency of the pyruvate dehydrogenase complex.
P2860
Q35643208-F03A964E-2537-4E50-A5E2-D4C3CF6E7601
BestRank
Statement
http://www.wikidata.org/entity/statement/Q35643208-F03A964E-2537-4E50-A5E2-D4C3CF6E7601
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
90f68bd2fa77f933d467f7681dd4e90586a499a1
P2860
Mutations which alter splicing in the human hypoxanthine-guanine phosphoribosyltransferase gene