wikimedia
/
wikidata
/
Login
Register
TriplyDB
Wikidata
Browser
Triples
Insights
Schema
BETA
Class frequency
Class hierarchy
SPARQL
GraphQL
BETA
Graphs
1
Q34135469-100AFB98-B48A-43BE-A3EE-AE69F5D93557
Q34135469-100AFB98-B48A-43BE-A3EE-AE69F5D93557
BestRank
Statement
http://www.wikidata.org/entity/statement/Q34135469-100AFB98-B48A-43BE-A3EE-AE69F5D93557
The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy.
P2860
Q34135469-100AFB98-B48A-43BE-A3EE-AE69F5D93557
BestRank
Statement
http://www.wikidata.org/entity/statement/Q34135469-100AFB98-B48A-43BE-A3EE-AE69F5D93557
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
361534544978dec121b492cc52958943d485da98
P2860
ISCEV standard for clinical pattern electroretinography--2007 update.