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
Q38697197-79A952ED-FBA8-41AC-B7CA-1F7266199E2B
Q38697197-79A952ED-FBA8-41AC-B7CA-1F7266199E2B
BestRank
Statement
http://www.wikidata.org/entity/statement/Q38697197-79A952ED-FBA8-41AC-B7CA-1F7266199E2B
Two novel mutations in RNU4ATAC in two siblings with an atypical mild phenotype of microcephalic osteodysplastic primordial dwarfism type 1.
P2860
Q38697197-79A952ED-FBA8-41AC-B7CA-1F7266199E2B
BestRank
Statement
http://www.wikidata.org/entity/statement/Q38697197-79A952ED-FBA8-41AC-B7CA-1F7266199E2B
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
e5ff7b4d12e9829beb723a987ca71e3a11226bf5
P2860
Expanding the phenotypic and mutational spectrum in microcephalic osteodysplastic primordial dwarfism type I