wikimedia
/
wikidata
/
Login
Register
TriplyDB
Wikidata
Browser
Triples
Insights
Schema
BETA
Class frequency
Class hierarchy
SPARQL
GraphQL
Graphs
1
Q33670246-2D03A53D-5422-459E-8130-81A358C46048
Q33670246-2D03A53D-5422-459E-8130-81A358C46048
BestRank
Statement
http://www.wikidata.org/entity/statement/Q33670246-2D03A53D-5422-459E-8130-81A358C46048
Whole-exome sequencing identifies a novel de novo mutation in DYNC1H1 in epileptic encephalopathies
P2860
Q33670246-2D03A53D-5422-459E-8130-81A358C46048
BestRank
Statement
http://www.wikidata.org/entity/statement/Q33670246-2D03A53D-5422-459E-8130-81A358C46048
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
283deb24d3933ff953f1b73568b05d522eec484f
P2860
Exome sequencing identifies de novo gain of function missense mutation in KCND2 in identical twins with autism and seizures that slows potassium channel inactivation.