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
Q52691549-F12C01A5-A586-4D22-B2F8-7CB8033AE34B
Q52691549-F12C01A5-A586-4D22-B2F8-7CB8033AE34B
BestRank
Statement
http://www.wikidata.org/entity/statement/Q52691549-F12C01A5-A586-4D22-B2F8-7CB8033AE34B
A novel MAP3K7 splice mutation causes cardiospondylocarpofacial syndrome with features of hereditary connective tissue disorder.
P2860
Q52691549-F12C01A5-A586-4D22-B2F8-7CB8033AE34B
BestRank
Statement
http://www.wikidata.org/entity/statement/Q52691549-F12C01A5-A586-4D22-B2F8-7CB8033AE34B
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
633cf54a0bb5be4b8edb62a7624d2f0310c5e6cf
P2860
Heterozygous Mutations in MAP3K7, Encoding TGF-β-Activated Kinase 1, Cause Cardiospondylocarpofacial Syndrome.