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http://purl.uniprot.org/citations/27668284http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/27668284http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/27668284http://www.w3.org/2000/01/rdf-schema#comment"Recently, exome sequencing has extended our knowledge of genetic causes of developmental delay through identification of de novo, germline mutations in the guanine nucleotide-binding protein, beta 1 (GNB1) in 13 patients with neurodevelopmental disability and a wide range of additional symptoms and signs including hypotonia in 11 and seizures in 10 of the patients. Limb/arm dystonia was found in 2 patients.(1)."xsd:string
http://purl.uniprot.org/citations/27668284http://purl.org/dc/terms/identifier"doi:10.1212/nxg.0000000000000106"xsd:string
http://purl.uniprot.org/citations/27668284http://purl.org/dc/terms/identifier"doi:10.1212/nxg.0000000000000106"xsd:string
http://purl.uniprot.org/citations/27668284http://purl.uniprot.org/core/author"Hartmann C."xsd:string
http://purl.uniprot.org/citations/27668284http://purl.uniprot.org/core/author"Hartmann C."xsd:string
http://purl.uniprot.org/citations/27668284http://purl.uniprot.org/core/author"Rolfs A."xsd:string
http://purl.uniprot.org/citations/27668284http://purl.uniprot.org/core/author"Rolfs A."xsd:string
http://purl.uniprot.org/citations/27668284http://purl.uniprot.org/core/author"Lohmann K."xsd:string
http://purl.uniprot.org/citations/27668284http://purl.uniprot.org/core/author"Lohmann K."xsd:string
http://purl.uniprot.org/citations/27668284http://purl.uniprot.org/core/author"Muenchau A."xsd:string
http://purl.uniprot.org/citations/27668284http://purl.uniprot.org/core/author"Muenchau A."xsd:string
http://purl.uniprot.org/citations/27668284http://purl.uniprot.org/core/author"Baeumer T."xsd:string
http://purl.uniprot.org/citations/27668284http://purl.uniprot.org/core/author"Baeumer T."xsd:string
http://purl.uniprot.org/citations/27668284http://purl.uniprot.org/core/author"Domingo A."xsd:string
http://purl.uniprot.org/citations/27668284http://purl.uniprot.org/core/author"Domingo A."xsd:string
http://purl.uniprot.org/citations/27668284http://purl.uniprot.org/core/author"Spiegler J."xsd:string
http://purl.uniprot.org/citations/27668284http://purl.uniprot.org/core/author"Spiegler J."xsd:string
http://purl.uniprot.org/citations/27668284http://purl.uniprot.org/core/author"Steinruecke S."xsd:string
http://purl.uniprot.org/citations/27668284http://purl.uniprot.org/core/author"Steinruecke S."xsd:string
http://purl.uniprot.org/citations/27668284http://purl.uniprot.org/core/date"2016"xsd:gYear
http://purl.uniprot.org/citations/27668284http://purl.uniprot.org/core/date"2016"xsd:gYear
http://purl.uniprot.org/citations/27668284http://purl.uniprot.org/core/name"Neurol. Genet."xsd:string
http://purl.uniprot.org/citations/27668284http://purl.uniprot.org/core/name"Neurol. Genet."xsd:string