| http://purl.uniprot.org/citations/22306654 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/22306654 | http://www.w3.org/2000/01/rdf-schema#comment | "Infantile hypertrophic pyloric stenosis (IHPS) is a severe condition characterized by hypertrophy of the pyloric sphincter muscle. We conducted a genome-wide association study (GWAS) on 1,001 surgery-confirmed cases and 2,401 controls from Denmark. The six most strongly associated loci were tested in a replication set of 796 cases and 876 controls. Three SNPs reached genome-wide significance. One of these SNPs, rs11712066 (odds ratio (OR) = 1.61; P = 1.5 × 10(-17)) at 3p25.1, is located 150 kb upstream of MBNL1, which encodes a factor that regulates splicing transitions occurring shortly after birth. The second SNP, rs573872 (OR = 1.41; P = 4.3 × 10(-12)), maps to an intergenic region at 3p25.2 approximately 1.3 Mb downstream of MBNL1. The third SNP, rs29784 (OR = 1.42; P = 1.5 × 10(-15)) at 5q35.2, is 64 kb downstream of NKX2-5, which is involved in development of cardiac muscle tissue and embryonic gut development."xsd:string |
| http://purl.uniprot.org/citations/22306654 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng.1067"xsd:string |
| http://purl.uniprot.org/citations/22306654 | http://purl.uniprot.org/core/author | "Geller F."xsd:string |
| http://purl.uniprot.org/citations/22306654 | http://purl.uniprot.org/core/author | "Murray J.C."xsd:string |
| http://purl.uniprot.org/citations/22306654 | http://purl.uniprot.org/core/author | "Hollegaard M.V."xsd:string |
| http://purl.uniprot.org/citations/22306654 | http://purl.uniprot.org/core/author | "Hougaard D.M."xsd:string |
| http://purl.uniprot.org/citations/22306654 | http://purl.uniprot.org/core/author | "Feenstra B."xsd:string |
| http://purl.uniprot.org/citations/22306654 | http://purl.uniprot.org/core/author | "Melbye M."xsd:string |
| http://purl.uniprot.org/citations/22306654 | http://purl.uniprot.org/core/author | "Boyd H.A."xsd:string |
| http://purl.uniprot.org/citations/22306654 | http://purl.uniprot.org/core/author | "Gortz S."xsd:string |
| http://purl.uniprot.org/citations/22306654 | http://purl.uniprot.org/core/author | "Krogh C."xsd:string |
| http://purl.uniprot.org/citations/22306654 | http://purl.uniprot.org/core/date | "2012"xsd:gYear |
| http://purl.uniprot.org/citations/22306654 | http://purl.uniprot.org/core/name | "Nat Genet"xsd:string |
| http://purl.uniprot.org/citations/22306654 | http://purl.uniprot.org/core/pages | "334-337"xsd:string |
| http://purl.uniprot.org/citations/22306654 | http://purl.uniprot.org/core/title | "Common variants near MBNL1 and NKX2-5 are associated with infantile hypertrophic pyloric stenosis."xsd:string |
| http://purl.uniprot.org/citations/22306654 | http://purl.uniprot.org/core/volume | "44"xsd:string |
| http://purl.uniprot.org/citations/22306654 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/22306654 |
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| http://purl.uniprot.org/uniprot/#_A0A2R4LFK0-mappedCitation-22306654 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/22306654 |
| http://purl.uniprot.org/uniprot/#_A0A0S2Z383-mappedCitation-22306654 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/22306654 |
| http://purl.uniprot.org/uniprot/#_A0A165EY39-mappedCitation-22306654 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/22306654 |
| http://purl.uniprot.org/uniprot/#_A0A165EY55-mappedCitation-22306654 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/22306654 |