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
Q33919216-BE58FFF1-B26D-4D6D-A2C7-F9D5EDC1691A
Q33919216-BE58FFF1-B26D-4D6D-A2C7-F9D5EDC1691A
BestRank
Statement
http://www.wikidata.org/entity/statement/Q33919216-BE58FFF1-B26D-4D6D-A2C7-F9D5EDC1691A
Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome.
P2860
Q33919216-BE58FFF1-B26D-4D6D-A2C7-F9D5EDC1691A
BestRank
Statement
http://www.wikidata.org/entity/statement/Q33919216-BE58FFF1-B26D-4D6D-A2C7-F9D5EDC1691A
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
877d19b947c951837501ec13ef5a61841c30762e
P2860
Mechanisms leading to uniparental disomy and their clinical consequences