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Q38275252-037D3B5D-AB2A-4921-BF9B-09CB960345BB
Q38275252-037D3B5D-AB2A-4921-BF9B-09CB960345BB
BestRank
Statement
http://www.wikidata.org/entity/statement/Q38275252-037D3B5D-AB2A-4921-BF9B-09CB960345BB
The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and beyond.
P2860
Q38275252-037D3B5D-AB2A-4921-BF9B-09CB960345BB
BestRank
Statement
http://www.wikidata.org/entity/statement/Q38275252-037D3B5D-AB2A-4921-BF9B-09CB960345BB
rank
NormalRank
type
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Statement
wasDerivedFrom
8a41c62cd8b3079eb4c9c03cf8cda8ee0d5ac352
P2860
Mutation I810N in the alpha3 isoform of Na+,K+-ATPase causes impairments in the sodium pump and hyperexcitability in the CNS.