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
Q37365488-7499EC71-80AE-4058-AA88-3E68D0F20E56
Q37365488-7499EC71-80AE-4058-AA88-3E68D0F20E56
BestRank
Statement
http://www.wikidata.org/entity/statement/Q37365488-7499EC71-80AE-4058-AA88-3E68D0F20E56
A single-base substitution within an intronic repetitive element causes dominant retinitis pigmentosa with reduced penetrance
P2860
Q37365488-7499EC71-80AE-4058-AA88-3E68D0F20E56
BestRank
Statement
http://www.wikidata.org/entity/statement/Q37365488-7499EC71-80AE-4058-AA88-3E68D0F20E56
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
ce277216a9670de45da9b7dac2c54ac6a1eaeafd
P2860
A novel donor splice site in intron 11 of the CFTR gene, created by mutation 1811+1.6kbA-->G, produces a new exon: high frequency in Spanish cystic fibrosis chromosomes and association with severe phenotype.