| http://purl.uniprot.org/citations/31311986 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/31311986 | http://www.w3.org/2000/01/rdf-schema#comment | "Complex rearrangements of chromosomes 3 and 9 were found in a patient presenting with severe epilepsy, developmental delay, dysmorphic facial features, and skeletal abnormalities. Molecular cytogenetic analysis revealed 46,XX.ish der(9)(3qter→3q28::9p21.1→9p22.3::9p22.3→9qter)(RP11-368G14+,RP11-299O8-,RP11-905L2++,RP11-775E6++). Her dysmorphic features are consistent with 3q29 microduplication syndrome and inv dup del(9p). Trio-based WES of the patient revealed no pathogenic single nucleotide variants causing epilepsy, but confirmed a 3q28q29 duplication involving FGF12, which encodes fibroblast growth factor 12. FGF12 positively regulates the activity of voltage-gated sodium channels. Recently, only one recurrent gain-of-function variant [NM_021032.4:c.341G>A:p.(Arg114His)] in FGF12 was found in a total of 10 patients with severe early-onset epilepsy. We propose that the patient's entire FGF12 duplication may be analogous to the gain-of-function variant in FGF12 in the epileptic phenotype of this patient."xsd:string |
| http://purl.uniprot.org/citations/31311986 | http://purl.org/dc/terms/identifier | "doi:10.1038/s10038-019-0641-1"xsd:string |
| http://purl.uniprot.org/citations/31311986 | http://purl.uniprot.org/core/author | "Oda Y."xsd:string |
| http://purl.uniprot.org/citations/31311986 | http://purl.uniprot.org/core/author | "Ogata H."xsd:string |
| http://purl.uniprot.org/citations/31311986 | http://purl.uniprot.org/core/author | "Matsubara Y."xsd:string |
| http://purl.uniprot.org/citations/31311986 | http://purl.uniprot.org/core/author | "Matsumoto N."xsd:string |
| http://purl.uniprot.org/citations/31311986 | http://purl.uniprot.org/core/author | "Azuma Y."xsd:string |
| http://purl.uniprot.org/citations/31311986 | http://purl.uniprot.org/core/author | "Yanagi K."xsd:string |
| http://purl.uniprot.org/citations/31311986 | http://purl.uniprot.org/core/author | "Fujita A."xsd:string |
| http://purl.uniprot.org/citations/31311986 | http://purl.uniprot.org/core/author | "Uchiyama Y."xsd:string |
| http://purl.uniprot.org/citations/31311986 | http://purl.uniprot.org/core/author | "Mizuguchi T."xsd:string |
| http://purl.uniprot.org/citations/31311986 | http://purl.uniprot.org/core/author | "Harita Y."xsd:string |
| http://purl.uniprot.org/citations/31311986 | http://purl.uniprot.org/core/author | "Hata K."xsd:string |
| http://purl.uniprot.org/citations/31311986 | http://purl.uniprot.org/core/author | "Kaname T."xsd:string |
| http://purl.uniprot.org/citations/31311986 | http://purl.uniprot.org/core/author | "Wakui K."xsd:string |
| http://purl.uniprot.org/citations/31311986 | http://purl.uniprot.org/core/author | "Motomura A."xsd:string |
| http://purl.uniprot.org/citations/31311986 | http://purl.uniprot.org/core/date | "2019"xsd:gYear |
| http://purl.uniprot.org/citations/31311986 | http://purl.uniprot.org/core/name | "J Hum Genet"xsd:string |
| http://purl.uniprot.org/citations/31311986 | http://purl.uniprot.org/core/pages | "1005-1014"xsd:string |
| http://purl.uniprot.org/citations/31311986 | http://purl.uniprot.org/core/title | "Entire FGF12 duplication by complex chromosomal rearrangements associated with West syndrome."xsd:string |
| http://purl.uniprot.org/citations/31311986 | http://purl.uniprot.org/core/volume | "64"xsd:string |
| http://purl.uniprot.org/citations/31311986 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/31311986 |
| http://purl.uniprot.org/citations/31311986 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/31311986 |
| http://purl.uniprot.org/uniprot/#_A0A7U3JVY3-mappedCitation-31311986 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/31311986 |