http://purl.uniprot.org/citations/27668284 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/27668284 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/27668284 | http://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/27668284 | http://purl.org/dc/terms/identifier | "doi:10.1212/nxg.0000000000000106"xsd:string |
http://purl.uniprot.org/citations/27668284 | http://purl.org/dc/terms/identifier | "doi:10.1212/nxg.0000000000000106"xsd:string |
http://purl.uniprot.org/citations/27668284 | http://purl.uniprot.org/core/author | "Hartmann C."xsd:string |
http://purl.uniprot.org/citations/27668284 | http://purl.uniprot.org/core/author | "Hartmann C."xsd:string |
http://purl.uniprot.org/citations/27668284 | http://purl.uniprot.org/core/author | "Rolfs A."xsd:string |
http://purl.uniprot.org/citations/27668284 | http://purl.uniprot.org/core/author | "Rolfs A."xsd:string |
http://purl.uniprot.org/citations/27668284 | http://purl.uniprot.org/core/author | "Lohmann K."xsd:string |
http://purl.uniprot.org/citations/27668284 | http://purl.uniprot.org/core/author | "Lohmann K."xsd:string |
http://purl.uniprot.org/citations/27668284 | http://purl.uniprot.org/core/author | "Muenchau A."xsd:string |
http://purl.uniprot.org/citations/27668284 | http://purl.uniprot.org/core/author | "Muenchau A."xsd:string |
http://purl.uniprot.org/citations/27668284 | http://purl.uniprot.org/core/author | "Baeumer T."xsd:string |
http://purl.uniprot.org/citations/27668284 | http://purl.uniprot.org/core/author | "Baeumer T."xsd:string |
http://purl.uniprot.org/citations/27668284 | http://purl.uniprot.org/core/author | "Domingo A."xsd:string |
http://purl.uniprot.org/citations/27668284 | http://purl.uniprot.org/core/author | "Domingo A."xsd:string |
http://purl.uniprot.org/citations/27668284 | http://purl.uniprot.org/core/author | "Spiegler J."xsd:string |
http://purl.uniprot.org/citations/27668284 | http://purl.uniprot.org/core/author | "Spiegler J."xsd:string |
http://purl.uniprot.org/citations/27668284 | http://purl.uniprot.org/core/author | "Steinruecke S."xsd:string |
http://purl.uniprot.org/citations/27668284 | http://purl.uniprot.org/core/author | "Steinruecke S."xsd:string |
http://purl.uniprot.org/citations/27668284 | http://purl.uniprot.org/core/date | "2016"xsd:gYear |
http://purl.uniprot.org/citations/27668284 | http://purl.uniprot.org/core/date | "2016"xsd:gYear |
http://purl.uniprot.org/citations/27668284 | http://purl.uniprot.org/core/name | "Neurol. Genet."xsd:string |
http://purl.uniprot.org/citations/27668284 | http://purl.uniprot.org/core/name | "Neurol. Genet."xsd:string |