awgldk
/
wikidata
/
Login
Register
TriplyDB
Wikidata
Browser
Triples
Insights
Schema
BETA
Class frequency
Class hierarchy
SPARQL
Graphs
1
Q40139592-6152C3C2-AFDC-4ECF-9929-656AACEFBFD6
Q40139592-6152C3C2-AFDC-4ECF-9929-656AACEFBFD6
BestRank
Statement
http://www.wikidata.org/entity/statement/Q40139592-6152C3C2-AFDC-4ECF-9929-656AACEFBFD6
Exome sequencing reveals a novel homozygous splice site variant in the WNT1 gene underlying osteogenesis imperfecta type 3.
P2860
Q40139592-6152C3C2-AFDC-4ECF-9929-656AACEFBFD6
BestRank
Statement
http://www.wikidata.org/entity/statement/Q40139592-6152C3C2-AFDC-4ECF-9929-656AACEFBFD6
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
997f4778f694e028ff6d6061ae8b91d0b2b3a2f8
P2860
WNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfecta.