awgldk
/
wikidata
/
Login
Register
TriplyDB
Wikidata
Browser
Triples
Insights
Schema
BETA
Class frequency
Class hierarchy
SPARQL
GraphQL
BETA
Graphs
1
Q42592070-7FF9C08B-F00A-46A4-8278-393BE6948339
Q42592070-7FF9C08B-F00A-46A4-8278-393BE6948339
BestRank
Statement
http://www.wikidata.org/entity/statement/Q42592070-7FF9C08B-F00A-46A4-8278-393BE6948339
Two CF patients, one homozygous for the 621 + 1G > T splice mutation, the other homozygous for the 1898 + 1G > A splice mutation.
P2860
Q42592070-7FF9C08B-F00A-46A4-8278-393BE6948339
BestRank
Statement
http://www.wikidata.org/entity/statement/Q42592070-7FF9C08B-F00A-46A4-8278-393BE6948339
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
1faeb986f217c2ec46a6ebcfb5d1072b2b8c9dfc
P2860
Association of a nonsense mutation (W1282X), the most common mutation in the Ashkenazi Jewish cystic fibrosis patients in Israel, with presentation of severe disease