awgldk
/
wikidata
/
Login
Register
TriplyDB
Wikidata
Browser
Triples
Insights
Schema
BETA
Class frequency
Class hierarchy
SPARQL
GraphQL
BETA
Graphs
1
Q36361194-2DEFBF6F-BA4E-46A8-9EC5-902FE609ACD9
Q36361194-2DEFBF6F-BA4E-46A8-9EC5-902FE609ACD9
BestRank
Statement
http://www.wikidata.org/entity/statement/Q36361194-2DEFBF6F-BA4E-46A8-9EC5-902FE609ACD9
Clinical Laboratory Experience of Blood CRIM Testing in Infantile Pompe Disease
P2860
Q36361194-2DEFBF6F-BA4E-46A8-9EC5-902FE609ACD9
BestRank
Statement
http://www.wikidata.org/entity/statement/Q36361194-2DEFBF6F-BA4E-46A8-9EC5-902FE609ACD9
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
09eea50dac167e44e08e12a8b8f24df7e5609860
P2860
A de novo 13 nt deletion, a newly identified C647W missense mutation and a deletion of exon 18 in infantile onset glycogen storage disease type II (GSDII).