| http://purl.uniprot.org/citations/28412737 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/28412737 | http://www.w3.org/2000/01/rdf-schema#comment | "As a rare type of Congenital Heart Defects (CHD), the genetic mechanism of Total Anomalous Pulmonary Venous Return (TAPVR) remains unknown, although previous studies have revealed potential disease-driving regions/genes. Blood samples collected from the 6 sporadic TAPVR cases and 81 non-TAPVR controls were subjected to whole exome sequencing. All detected variations were confirmed by direct Sanger sequencing. Here, we identified 2 non-synonymous missense mutations: c.C652T, p.R218W in activin A receptor type II-like 1 (ACVRL1), c.C717G, p.D239E in sarcoglycan delta (SGCD). Our results offered the landscape of mutations for TAPVR in Chinese population firstly and are valuable in the mutation-based pre- and post-natal screening and genetic diagnosis for TAPVR."xsd:string |
| http://purl.uniprot.org/citations/28412737 | http://purl.org/dc/terms/identifier | "doi:10.18632/oncotarget.15434"xsd:string |
| http://purl.uniprot.org/citations/28412737 | http://purl.uniprot.org/core/author | "Cheng X."xsd:string |
| http://purl.uniprot.org/citations/28412737 | http://purl.uniprot.org/core/author | "Cheng Y."xsd:string |
| http://purl.uniprot.org/citations/28412737 | http://purl.uniprot.org/core/author | "Du F."xsd:string |
| http://purl.uniprot.org/citations/28412737 | http://purl.uniprot.org/core/author | "Jiang T."xsd:string |
| http://purl.uniprot.org/citations/28412737 | http://purl.uniprot.org/core/author | "Li J."xsd:string |
| http://purl.uniprot.org/citations/28412737 | http://purl.uniprot.org/core/author | "Li X."xsd:string |
| http://purl.uniprot.org/citations/28412737 | http://purl.uniprot.org/core/author | "Qi J."xsd:string |
| http://purl.uniprot.org/citations/28412737 | http://purl.uniprot.org/core/author | "Wang J."xsd:string |
| http://purl.uniprot.org/citations/28412737 | http://purl.uniprot.org/core/author | "Ren C."xsd:string |
| http://purl.uniprot.org/citations/28412737 | http://purl.uniprot.org/core/author | "Yang S."xsd:string |
| http://purl.uniprot.org/citations/28412737 | http://purl.uniprot.org/core/author | "Cao L."xsd:string |
| http://purl.uniprot.org/citations/28412737 | http://purl.uniprot.org/core/author | "Dai J."xsd:string |
| http://purl.uniprot.org/citations/28412737 | http://purl.uniprot.org/core/author | "Jiang Z."xsd:string |
| http://purl.uniprot.org/citations/28412737 | http://purl.uniprot.org/core/author | "Qin Y."xsd:string |
| http://purl.uniprot.org/citations/28412737 | http://purl.uniprot.org/core/author | "Dai G."xsd:string |
| http://purl.uniprot.org/citations/28412737 | http://purl.uniprot.org/core/author | "Pu Z."xsd:string |
| http://purl.uniprot.org/citations/28412737 | http://purl.uniprot.org/core/date | "2017"xsd:gYear |
| http://purl.uniprot.org/citations/28412737 | http://purl.uniprot.org/core/name | "Oncotarget"xsd:string |
| http://purl.uniprot.org/citations/28412737 | http://purl.uniprot.org/core/pages | "27812-27819"xsd:string |
| http://purl.uniprot.org/citations/28412737 | http://purl.uniprot.org/core/title | "Whole-exome sequencing identifies SGCD and ACVRL1 mutations associated with total anomalous pulmonary venous return (TAPVR) in Chinese population."xsd:string |
| http://purl.uniprot.org/citations/28412737 | http://purl.uniprot.org/core/volume | "8"xsd:string |
| http://purl.uniprot.org/citations/28412737 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/28412737 |