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
Q47624116-020714F9-3254-4CDA-9110-E15BB3C7852B
Q47624116-020714F9-3254-4CDA-9110-E15BB3C7852B
BestRank
Statement
http://www.wikidata.org/entity/statement/Q47624116-020714F9-3254-4CDA-9110-E15BB3C7852B
Metaphyseal chondrodysplasia type Schmid mutations are predicted to occur in two distinct three-dimensional clusters within type X collagen NC1 domains that retain the ability to trimerize.
P2860
Q47624116-020714F9-3254-4CDA-9110-E15BB3C7852B
BestRank
Statement
http://www.wikidata.org/entity/statement/Q47624116-020714F9-3254-4CDA-9110-E15BB3C7852B
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
55f61b03451c2b5202f8c196d86ecafd7ce0c51b
P2860
A nonsense mutation in the carboxyl-terminal domain of type X collagen causes haploinsufficiency in schmid metaphyseal chondrodysplasia