awgldk
/
wikidata
/
Login
Register
TriplyDB
Wikidata
Browser
Triples
Insights
Schema
BETA
Class frequency
Class hierarchy
SPARQL
GraphQL
BETA
Graphs
1
Q51022664-DC4ACD33-562E-46BE-90B9-067AE02A3DDA
Q51022664-DC4ACD33-562E-46BE-90B9-067AE02A3DDA
BestRank
Statement
http://www.wikidata.org/entity/statement/Q51022664-DC4ACD33-562E-46BE-90B9-067AE02A3DDA
A novel mutation of the glycyl-tRNA synthetase (GARS) gene associated with Charcot-Marie-Tooth type 2D in a Chinese family.
P2860
Q51022664-DC4ACD33-562E-46BE-90B9-067AE02A3DDA
BestRank
Statement
http://www.wikidata.org/entity/statement/Q51022664-DC4ACD33-562E-46BE-90B9-067AE02A3DDA
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
57bc3f7adb0bc2a2a805c13276ee6aa5c28ec720
P2860
Severe childhood SMA and axonal CMT due to anticodon binding domain mutations in the GARS gene.