awgldk
/
wikidata
/
Login
Register
TriplyDB
Wikidata
Browser
Table
SPARQL
Graphs
1
1
Services
1
1
Assets
0
0
Insights
Schema
BETA
Class frequency
Class hierarchy
Q28709034-C184BB97-7969-4BAF-85A1-C2C07DC303EA
Q28709034-C184BB97-7969-4BAF-85A1-C2C07DC303EA
BestRank
Statement
http://www.wikidata.org/entity/statement/Q28709034-C184BB97-7969-4BAF-85A1-C2C07DC303EA
Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement
P2860
Q28709034-C184BB97-7969-4BAF-85A1-C2C07DC303EA
BestRank
Statement
http://www.wikidata.org/entity/statement/Q28709034-C184BB97-7969-4BAF-85A1-C2C07DC303EA
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
3882b21374922d02c8d0cd576749d9a290b8ddd1
P2860
IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy.