awgldk
/
wikidata
/
Login
Register
TriplyDB
Wikidata
Browser
Triples
Insights
Schema
BETA
Class frequency
Class hierarchy
SPARQL
GraphQL
Graphs
1
Q36194437-B382D334-B875-4962-BDF1-6B372E3D95DC
Q36194437-B382D334-B875-4962-BDF1-6B372E3D95DC
BestRank
Statement
http://www.wikidata.org/entity/statement/Q36194437-B382D334-B875-4962-BDF1-6B372E3D95DC
Novel homozygous missense mutation in GAN associated with Charcot-Marie-Tooth disease type 2 in a large consanguineous family from Israel.
P2860
Q36194437-B382D334-B875-4962-BDF1-6B372E3D95DC
BestRank
Statement
http://www.wikidata.org/entity/statement/Q36194437-B382D334-B875-4962-BDF1-6B372E3D95DC
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
76621ebd6c99598a8beb5084abe2d4802ed0111a
P2860
The instability of the BTB-KELCH protein Gigaxonin causes Giant Axonal Neuropathy and constitutes a new penetrant and specific diagnostic test