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
Q46379359-2E41B85B-7517-4DDF-8D37-2F557B3E177D
Q46379359-2E41B85B-7517-4DDF-8D37-2F557B3E177D
BestRank
Statement
http://www.wikidata.org/entity/statement/Q46379359-2E41B85B-7517-4DDF-8D37-2F557B3E177D
Autosomal recessive deafness 1A (DFNB1A) in Yakut population isolate in Eastern Siberia: extensive accumulation of the splice site mutation IVS1+1G>A in GJB2 gene as a result of founder effect.
P2860
Q46379359-2E41B85B-7517-4DDF-8D37-2F557B3E177D
BestRank
Statement
http://www.wikidata.org/entity/statement/Q46379359-2E41B85B-7517-4DDF-8D37-2F557B3E177D
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
aeb515755302e8c651ab743984c573022eb604f7
P2860
The c.IVS1+1G>A mutation in the GJB2 gene is prevalent and large deletions involving the GJB6 gene are not present in the Turkish population.