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
Q24309219-3EBD4849-A8C4-4762-9CF8-8DD87F519848
Q24309219-3EBD4849-A8C4-4762-9CF8-8DD87F519848
BestRank
Statement
http://www.wikidata.org/entity/statement/Q24309219-3EBD4849-A8C4-4762-9CF8-8DD87F519848
Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophy
P2860
Q24309219-3EBD4849-A8C4-4762-9CF8-8DD87F519848
BestRank
Statement
http://www.wikidata.org/entity/statement/Q24309219-3EBD4849-A8C4-4762-9CF8-8DD87F519848
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
7013d84f2c92cdfae155e9f3d4c931bc5c32cb5f
P2860
Epidermolysis bullosa simplex associated with pyloric atresia is a novel clinical subtype caused by mutations in the plectin gene (PLEC1)