| http://purl.uniprot.org/citations/30891739 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/30891739 | http://www.w3.org/2000/01/rdf-schema#comment | "Primary familial brain calcification (PFBC) is a rare neurological disorder. Mutations in five genes (SLC20A2, PDGFRB, PDGFB, XPR1, and MYORG) have been linked to PFBC. Here, we used SYBR green-based real-time quantitative polymerase chain reaction (PCR) assay and denaturing high-performance liquid chromatography analysis to detect copy number variants (CNVs) in 20 unrelated patients with PFBC, negatively sequenced for the five known genes. We identified three deletions in SLC20A2, including a large de novo full gene deletion and two exonic deletions confined to exon 2 and exon 6, respectively. Subsequent linked-read whole-genome sequencing of the patient with the large deletion showed a 1.7 Mb heterozygous deletion which removed the entire coding regions of SLC20A2 as well as 21 other genes. In the family with a deletion of exon 6, a missense variant of uncertain significance (SLC20A2: p.E267Q) also co-segregated with the disease. Functional assay showed the deletion could result in significantly impaired phosphate transport, whereas the p.E267Q variant did not. Our results confirm that deletion in SLC20A2 is a causal mechanism for PFBC and highlight the importance of functional study for classifying a rare missense variant as (likely) pathogenic."xsd:string |
| http://purl.uniprot.org/citations/30891739 | http://purl.org/dc/terms/identifier | "doi:10.1111/cge.13540"xsd:string |
| http://purl.uniprot.org/citations/30891739 | http://purl.uniprot.org/core/author | "Lin J."xsd:string |
| http://purl.uniprot.org/citations/30891739 | http://purl.uniprot.org/core/author | "Li Y.L."xsd:string |
| http://purl.uniprot.org/citations/30891739 | http://purl.uniprot.org/core/author | "Wang C."xsd:string |
| http://purl.uniprot.org/citations/30891739 | http://purl.uniprot.org/core/author | "Zhao M."xsd:string |
| http://purl.uniprot.org/citations/30891739 | http://purl.uniprot.org/core/author | "Wang N."xsd:string |
| http://purl.uniprot.org/citations/30891739 | http://purl.uniprot.org/core/author | "Chen W.J."xsd:string |
| http://purl.uniprot.org/citations/30891739 | http://purl.uniprot.org/core/author | "Yao X.P."xsd:string |
| http://purl.uniprot.org/citations/30891739 | http://purl.uniprot.org/core/author | "Lu Y.Q."xsd:string |
| http://purl.uniprot.org/citations/30891739 | http://purl.uniprot.org/core/author | "Hong J.M."xsd:string |
| http://purl.uniprot.org/citations/30891739 | http://purl.uniprot.org/core/author | "Guo X.X."xsd:string |
| http://purl.uniprot.org/citations/30891739 | http://purl.uniprot.org/core/author | "Lai L.L."xsd:string |
| http://purl.uniprot.org/citations/30891739 | http://purl.uniprot.org/core/author | "Su H.Z."xsd:string |
| http://purl.uniprot.org/citations/30891739 | http://purl.uniprot.org/core/author | "Zeng Y.H."xsd:string |
| http://purl.uniprot.org/citations/30891739 | http://purl.uniprot.org/core/author | "Zou X.H."xsd:string |
| http://purl.uniprot.org/citations/30891739 | http://purl.uniprot.org/core/author | "Lin K.X."xsd:string |
| http://purl.uniprot.org/citations/30891739 | http://purl.uniprot.org/core/date | "2019"xsd:gYear |
| http://purl.uniprot.org/citations/30891739 | http://purl.uniprot.org/core/name | "Clin Genet"xsd:string |
| http://purl.uniprot.org/citations/30891739 | http://purl.uniprot.org/core/pages | "53-60"xsd:string |
| http://purl.uniprot.org/citations/30891739 | http://purl.uniprot.org/core/title | "Identification of SLC20A2 deletions in patients with primary familial brain calcification."xsd:string |
| http://purl.uniprot.org/citations/30891739 | http://purl.uniprot.org/core/volume | "96"xsd:string |
| http://purl.uniprot.org/citations/30891739 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/30891739 |
| http://purl.uniprot.org/citations/30891739 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/30891739 |