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Q48269069-47810213-1B01-41FB-8A77-EA22AFA370F5
Q48269069-47810213-1B01-41FB-8A77-EA22AFA370F5
BestRank
Statement
http://www.wikidata.org/entity/statement/Q48269069-47810213-1B01-41FB-8A77-EA22AFA370F5
A novel gain-of-function mutation in the ITPR1 suppressor domain causes spinocerebellar ataxia with altered Ca2+ signal patterns.
P2860
Q48269069-47810213-1B01-41FB-8A77-EA22AFA370F5
BestRank
Statement
http://www.wikidata.org/entity/statement/Q48269069-47810213-1B01-41FB-8A77-EA22AFA370F5
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Statement
wasDerivedFrom
8a33f0687f3f5bf3916549d4fbdf33d21247bdaa
P2860
Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia.