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
Q39906643-3D6DBDA3-5022-4B09-8207-C8A2307EB9A7
Q39906643-3D6DBDA3-5022-4B09-8207-C8A2307EB9A7
BestRank
Statement
http://www.wikidata.org/entity/statement/Q39906643-3D6DBDA3-5022-4B09-8207-C8A2307EB9A7
Novel ATRX gene damaging missense mutation c.6740A>C segregates with profound to severe intellectual deficiency without alpha thalassaemia.
P2860
Q39906643-3D6DBDA3-5022-4B09-8207-C8A2307EB9A7
BestRank
Statement
http://www.wikidata.org/entity/statement/Q39906643-3D6DBDA3-5022-4B09-8207-C8A2307EB9A7
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
f2dfc72059dfb221c69aa536f0d50537962196b1
P2860
Mutations in PHD-like domain of the ATRX gene correlate with severe psychomotor impairment and severe urogenital abnormalities in patients with ATRX syndrome.