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
Q24675846-7F4105F7-89CE-4054-B131-EA346C7B17A6
Q24675846-7F4105F7-89CE-4054-B131-EA346C7B17A6
BestRank
Statement
http://www.wikidata.org/entity/statement/Q24675846-7F4105F7-89CE-4054-B131-EA346C7B17A6
Compound heterozygosity for a dominant glycine substitution and a recessive internal duplication mutation in the type XVII collagen gene results in junctional epidermolysis bullosa and abnormal dentition
P2860
Q24675846-7F4105F7-89CE-4054-B131-EA346C7B17A6
BestRank
Statement
http://www.wikidata.org/entity/statement/Q24675846-7F4105F7-89CE-4054-B131-EA346C7B17A6
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
935aa295a3d8568b5c3c179c8ae838df7333fd96
P2860
A homozygous nonsense mutation in the beta 3 chain gene of laminin 5 (LAMB3) in Herlitz junctional epidermolysis bullosa