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
Q50889240-672D5356-8B76-4F63-A421-A99282347246
Q50889240-672D5356-8B76-4F63-A421-A99282347246
BestRank
Statement
http://www.wikidata.org/entity/statement/Q50889240-672D5356-8B76-4F63-A421-A99282347246
High penetrance and pronounced variation in expressivity of GCH1 mutations in five families with dopa-responsive dystonia.
P2860
Q50889240-672D5356-8B76-4F63-A421-A99282347246
BestRank
Statement
http://www.wikidata.org/entity/statement/Q50889240-672D5356-8B76-4F63-A421-A99282347246
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
662984b860c4d801a4873d9e0a55c76d678f8801
P2860
GTP cyclohydrolase I deficiency, a new enzyme defect causing hyperphenylalaninemia with neopterin, biopterin, dopamine, and serotonin deficiencies and muscular hypotonia.