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
Q35599999-2CC4E559-A554-4D66-818B-5FFBD2209044
Q35599999-2CC4E559-A554-4D66-818B-5FFBD2209044
BestRank
Statement
http://www.wikidata.org/entity/statement/Q35599999-2CC4E559-A554-4D66-818B-5FFBD2209044
Ocular phenotypes associated with biallelic mutations in BEST1 in Italian patients.
P2860
Q35599999-2CC4E559-A554-4D66-818B-5FFBD2209044
BestRank
Statement
http://www.wikidata.org/entity/statement/Q35599999-2CC4E559-A554-4D66-818B-5FFBD2209044
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
5430a5546e88b676f669f694e251cce66c5e3e53
P2860
A homozygous frameshift mutation in BEST1 causes the classical form of Best disease in an autosomal recessive mode.