wikimedia
/
wikidata
/
Login
Register
TriplyDB
Wikidata
Browser
Table
SPARQL
Graphs
1
1
Services
1
1
Assets
0
0
Insights
Schema
BETA
Class frequency
Class hierarchy
Q33702563-147CEF63-E593-4ECD-84C4-492D1F2F5C99
Q33702563-147CEF63-E593-4ECD-84C4-492D1F2F5C99
BestRank
Statement
http://www.wikidata.org/entity/statement/Q33702563-147CEF63-E593-4ECD-84C4-492D1F2F5C99
Dysregulation of Ca(v)1.4 channels disrupts the maturation of photoreceptor synaptic ribbons in congenital stationary night blindness type 2
P2860
Q33702563-147CEF63-E593-4ECD-84C4-492D1F2F5C99
BestRank
Statement
http://www.wikidata.org/entity/statement/Q33702563-147CEF63-E593-4ECD-84C4-492D1F2F5C99
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
2f295289a681a49892466f72a582bbe4343d7863
P2860
A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorder.