| http://purl.uniprot.org/citations/26697951 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/26697951 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/26697951 | http://www.w3.org/2000/01/rdf-schema#comment | "Common FTO variants are associated with obesity. However, it has recently been shown that homozygous FTO c.947G>A variant, which predicts p.R316Q, and c.956C>T, which predicts p.S319F, are associated with a malformation syndrome inherited in an autosomal recessive pattern. We present a similar homozygous FTO c.965G>A variant that predicts p.R322Q, associated with a lethal malformation syndrome in a consanguineous Yemeni family. Functional studies showed that the p.R316Q, p.S219F, and p.R322Q variants render the FTO protein inactive. We further expand on the phenotype of homozygous FTO loss-of-function mutations to include eye abnormalities, gingival overgrowth, craniosynostosis, and cutaneous photosensitivity."xsd:string |
| http://purl.uniprot.org/citations/26697951 | http://purl.org/dc/terms/identifier | "doi:10.1002/ajmg.a.37515"xsd:string |
| http://purl.uniprot.org/citations/26697951 | http://purl.org/dc/terms/identifier | "doi:10.1002/ajmg.a.37515"xsd:string |
| http://purl.uniprot.org/citations/26697951 | http://purl.uniprot.org/core/author | "Guzman E."xsd:string |
| http://purl.uniprot.org/citations/26697951 | http://purl.uniprot.org/core/author | "Guzman E."xsd:string |
| http://purl.uniprot.org/citations/26697951 | http://purl.uniprot.org/core/author | "Ganapathi M."xsd:string |
| http://purl.uniprot.org/citations/26697951 | http://purl.uniprot.org/core/author | "Ganapathi M."xsd:string |
| http://purl.uniprot.org/citations/26697951 | http://purl.uniprot.org/core/author | "Anyane-Yeboa K."xsd:string |
| http://purl.uniprot.org/citations/26697951 | http://purl.uniprot.org/core/author | "Anyane-Yeboa K."xsd:string |
| http://purl.uniprot.org/citations/26697951 | http://purl.uniprot.org/core/author | "Rohena L."xsd:string |
| http://purl.uniprot.org/citations/26697951 | http://purl.uniprot.org/core/author | "Rohena L."xsd:string |
| http://purl.uniprot.org/citations/26697951 | http://purl.uniprot.org/core/author | "Cho M.T."xsd:string |
| http://purl.uniprot.org/citations/26697951 | http://purl.uniprot.org/core/author | "Cho M.T."xsd:string |
| http://purl.uniprot.org/citations/26697951 | http://purl.uniprot.org/core/author | "Lawson M."xsd:string |
| http://purl.uniprot.org/citations/26697951 | http://purl.uniprot.org/core/author | "Lawson M."xsd:string |
| http://purl.uniprot.org/citations/26697951 | http://purl.uniprot.org/core/author | "Haverfield E."xsd:string |
| http://purl.uniprot.org/citations/26697951 | http://purl.uniprot.org/core/author | "Haverfield E."xsd:string |
| http://purl.uniprot.org/citations/26697951 | http://purl.uniprot.org/core/date | "2016"xsd:gYear |
| http://purl.uniprot.org/citations/26697951 | http://purl.uniprot.org/core/date | "2016"xsd:gYear |
| http://purl.uniprot.org/citations/26697951 | http://purl.uniprot.org/core/name | "Am. J. Med. Genet. A"xsd:string |
| http://purl.uniprot.org/citations/26697951 | http://purl.uniprot.org/core/name | "Am. J. Med. Genet. A"xsd:string |
| http://purl.uniprot.org/citations/26697951 | http://purl.uniprot.org/core/pages | "1023-1028"xsd:string |
| http://purl.uniprot.org/citations/26697951 | http://purl.uniprot.org/core/pages | "1023-1028"xsd:string |