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
Q24672499-7908C795-92C0-4758-8955-AD392545A07A
Q24672499-7908C795-92C0-4758-8955-AD392545A07A
BestRank
Statement
http://www.wikidata.org/entity/statement/Q24672499-7908C795-92C0-4758-8955-AD392545A07A
Exon redefinition by a point mutation within exon 5 of the glucose-6-phosphatase gene is the major cause of glycogen storage disease type 1a in Japan
P2860
Q24672499-7908C795-92C0-4758-8955-AD392545A07A
BestRank
Statement
http://www.wikidata.org/entity/statement/Q24672499-7908C795-92C0-4758-8955-AD392545A07A
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
711f96059a9a8e3ce02d62743dbb9678b590c8e6
P2860
A novel exon in the cystic fibrosis transmembrane conductance regulator gene activated by the nonsense mutation E92X in airway epithelial cells of patients with cystic fibrosis