| http://purl.uniprot.org/citations/28542708 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/28542708 | http://www.w3.org/2000/01/rdf-schema#comment | "Pathogenic COL4A2 variants cause abnormalities in collagen production and can have serious implications for a range of organ systems, most notably the brain. Herein, we describe a large family of first-degree relatives affected by a novel heterozygous variant in COL4A2 (c.3490G.A). A wide disease spectrum is described, from asymptomatic to symptomatic, including 2 children with porencephaly and co-existing juvenile idiopathic polyarthritis. During a subsequent pregnancy, antenatal testing identified a positive fetus. In view of the literature, we review management and genetic counselling dilemmas."xsd:string |
| http://purl.uniprot.org/citations/28542708 | http://purl.org/dc/terms/identifier | "doi:10.1111/cge.13016"xsd:string |
| http://purl.uniprot.org/citations/28542708 | http://purl.uniprot.org/core/author | "Lynch B."xsd:string |
| http://purl.uniprot.org/citations/28542708 | http://purl.uniprot.org/core/author | "McGovern M."xsd:string |
| http://purl.uniprot.org/citations/28542708 | http://purl.uniprot.org/core/author | "Lynch S.A."xsd:string |
| http://purl.uniprot.org/citations/28542708 | http://purl.uniprot.org/core/author | "Allen N.M."xsd:string |
| http://purl.uniprot.org/citations/28542708 | http://purl.uniprot.org/core/author | "Flanagan O."xsd:string |
| http://purl.uniprot.org/citations/28542708 | http://purl.uniprot.org/core/date | "2017"xsd:gYear |
| http://purl.uniprot.org/citations/28542708 | http://purl.uniprot.org/core/name | "Clin Genet"xsd:string |
| http://purl.uniprot.org/citations/28542708 | http://purl.uniprot.org/core/pages | "447-448"xsd:string |
| http://purl.uniprot.org/citations/28542708 | http://purl.uniprot.org/core/title | "Novel COL4A2 variant in a large pedigree: Consequences and dilemmas."xsd:string |
| http://purl.uniprot.org/citations/28542708 | http://purl.uniprot.org/core/volume | "92"xsd:string |
| http://purl.uniprot.org/citations/28542708 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/28542708 |
| http://purl.uniprot.org/citations/28542708 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/28542708 |
| http://purl.uniprot.org/uniprot/#_B4DH43-mappedCitation-28542708 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/28542708 |
| http://purl.uniprot.org/uniprot/#_P08572-mappedCitation-28542708 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/28542708 |
| http://purl.uniprot.org/uniprot/P08572 | http://purl.uniprot.org/core/mappedCitation | http://purl.uniprot.org/citations/28542708 |
| http://purl.uniprot.org/uniprot/B4DH43 | http://purl.uniprot.org/core/mappedCitation | http://purl.uniprot.org/citations/28542708 |