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1
Q47731952-E39598D3-67F0-4B58-9AE2-F7D1CB7D1984
Q47731952-E39598D3-67F0-4B58-9AE2-F7D1CB7D1984
BestRank
Statement
http://www.wikidata.org/entity/statement/Q47731952-E39598D3-67F0-4B58-9AE2-F7D1CB7D1984
A novel homozygous change of CLCN2 (p.His590Pro) is associated with a subclinical form of leukoencephalopathy with ataxia (LKPAT).
P2093
Q47731952-E39598D3-67F0-4B58-9AE2-F7D1CB7D1984
BestRank
Statement
http://www.wikidata.org/entity/statement/Q47731952-E39598D3-67F0-4B58-9AE2-F7D1CB7D1984
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
7e8c82ef4687f23ba41736d93094b9d1bc1d4a8f
P1545
5
http://www.w3.org/2001/XMLSchema#string
P2093
Chiara Maria Eandi
http://www.w3.org/2001/XMLSchema#string