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Q28539549-81ABE112-64E5-4BFE-82BA-B265989F2245
Q28539549-81ABE112-64E5-4BFE-82BA-B265989F2245
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http://www.wikidata.org/entity/statement/Q28539549-81ABE112-64E5-4BFE-82BA-B265989F2245
Identification and glycerol-induced correction of misfolding mutations in the X-linked mental retardation gene CASK
P2860
Q28539549-81ABE112-64E5-4BFE-82BA-B265989F2245
BestRank
Statement
http://www.wikidata.org/entity/statement/Q28539549-81ABE112-64E5-4BFE-82BA-B265989F2245
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df5d77e604c3f7ba5305f7bab0b973d42ec11859
P2860
Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient