wikimedia
/
wikidata
/
Login
Register
TriplyDB
Wikidata
Browser
Table
SPARQL
Graphs
1
1
Services
1
1
Assets
0
0
Insights
Schema
BETA
Class frequency
Class hierarchy
Q33406130-667BF475-6450-4105-A9FE-3F07AE197186
Q33406130-667BF475-6450-4105-A9FE-3F07AE197186
BestRank
Statement
http://www.wikidata.org/entity/statement/Q33406130-667BF475-6450-4105-A9FE-3F07AE197186
A de novo T73I mutation in PTPN11 in a neonate with severe and prolonged congenital thrombocytopenia and Noonan syndrome.
P2860
Q33406130-667BF475-6450-4105-A9FE-3F07AE197186
BestRank
Statement
http://www.wikidata.org/entity/statement/Q33406130-667BF475-6450-4105-A9FE-3F07AE197186
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
adfca7ab88f8dc9c562a8a15515fd4c014f1aa74
P2860
Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome.