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| http://purl.uniprot.org/citations/29381230 | http://www.w3.org/2000/01/rdf-schema#comment | "We describe a novel de novo heterozygous variant in SYNGAP1 (c.1741C>T, p.R581W), identified through targeted resequencing in an 8-year-old boy with intellectual disability, autism spectrum disorder, distinctive dysmorphic features, and no seizures. Our data strongly suggest that the SYNGAP1 variant is causative of intellectual disability in this patient."xsd:string |
| http://purl.uniprot.org/citations/29381230 | http://purl.org/dc/terms/identifier | "doi:10.1111/cga.12273"xsd:string |
| http://purl.uniprot.org/citations/29381230 | http://purl.uniprot.org/core/author | "Kimura Y."xsd:string |
| http://purl.uniprot.org/citations/29381230 | http://purl.uniprot.org/core/author | "Harada N."xsd:string |
| http://purl.uniprot.org/citations/29381230 | http://purl.uniprot.org/core/author | "Tsurusaki Y."xsd:string |
| http://purl.uniprot.org/citations/29381230 | http://purl.uniprot.org/core/author | "Kurosawa K."xsd:string |
| http://purl.uniprot.org/citations/29381230 | http://purl.uniprot.org/core/author | "Enomoto Y."xsd:string |
| http://purl.uniprot.org/citations/29381230 | http://purl.uniprot.org/core/author | "Akahira-Azuma M."xsd:string |
| http://purl.uniprot.org/citations/29381230 | http://purl.uniprot.org/core/date | "2018"xsd:gYear |
| http://purl.uniprot.org/citations/29381230 | http://purl.uniprot.org/core/name | "Congenit Anom (Kyoto)"xsd:string |
| http://purl.uniprot.org/citations/29381230 | http://purl.uniprot.org/core/pages | "188-190"xsd:string |
| http://purl.uniprot.org/citations/29381230 | http://purl.uniprot.org/core/title | "Novel SYNGAP1 variant in a patient with intellectual disability and distinctive dysmorphisms."xsd:string |
| http://purl.uniprot.org/citations/29381230 | http://purl.uniprot.org/core/volume | "58"xsd:string |
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