| http://purl.uniprot.org/citations/28808579 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/28808579 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/28808579 | http://www.w3.org/2000/01/rdf-schema#comment | "We report a 10-year-old girl with Bardet-Biedl syndrome caused by a novel mutation in the Bardet-Biedl syndrome 10 (BBS10) gene. She had multiple malformations, including a dysmorphic face, postaxial polydactyly, polycystic kidney and amblyopia. She presented with typical BBS features, including intellectual disability with emotional outbursts and mild obesity. Whole-exome sequencing identified compound heterozygous mutations with NM_024685.3:c.1677C>A [p.(Tyr559*)] and c.1974T>G [p.(Tyr658*)]. To our knowledge, the latter mutation has never been reported previously."xsd:string |
| http://purl.uniprot.org/citations/28808579 | http://purl.org/dc/terms/identifier | "doi:10.1038/hgv.2017.33"xsd:string |
| http://purl.uniprot.org/citations/28808579 | http://purl.org/dc/terms/identifier | "doi:10.1038/hgv.2017.33"xsd:string |
| http://purl.uniprot.org/citations/28808579 | http://purl.uniprot.org/core/author | "Fukushima T."xsd:string |
| http://purl.uniprot.org/citations/28808579 | http://purl.uniprot.org/core/author | "Fukushima T."xsd:string |
| http://purl.uniprot.org/citations/28808579 | http://purl.uniprot.org/core/author | "Suzuki H."xsd:string |
| http://purl.uniprot.org/citations/28808579 | http://purl.uniprot.org/core/author | "Suzuki H."xsd:string |
| http://purl.uniprot.org/citations/28808579 | http://purl.uniprot.org/core/author | "Sakai A."xsd:string |
| http://purl.uniprot.org/citations/28808579 | http://purl.uniprot.org/core/author | "Sakai A."xsd:string |
| http://purl.uniprot.org/citations/28808579 | http://purl.uniprot.org/core/author | "Tanaka M."xsd:string |
| http://purl.uniprot.org/citations/28808579 | http://purl.uniprot.org/core/author | "Tanaka M."xsd:string |
| http://purl.uniprot.org/citations/28808579 | http://purl.uniprot.org/core/author | "Tanaka R."xsd:string |
| http://purl.uniprot.org/citations/28808579 | http://purl.uniprot.org/core/author | "Tanaka R."xsd:string |
| http://purl.uniprot.org/citations/28808579 | http://purl.uniprot.org/core/author | "Uehara T."xsd:string |
| http://purl.uniprot.org/citations/28808579 | http://purl.uniprot.org/core/author | "Uehara T."xsd:string |
| http://purl.uniprot.org/citations/28808579 | http://purl.uniprot.org/core/author | "Fukushima H."xsd:string |
| http://purl.uniprot.org/citations/28808579 | http://purl.uniprot.org/core/author | "Fukushima H."xsd:string |
| http://purl.uniprot.org/citations/28808579 | http://purl.uniprot.org/core/author | "Imagawa K."xsd:string |
| http://purl.uniprot.org/citations/28808579 | http://purl.uniprot.org/core/author | "Imagawa K."xsd:string |
| http://purl.uniprot.org/citations/28808579 | http://purl.uniprot.org/core/author | "Sumazaki R."xsd:string |
| http://purl.uniprot.org/citations/28808579 | http://purl.uniprot.org/core/author | "Sumazaki R."xsd:string |
| http://purl.uniprot.org/citations/28808579 | http://purl.uniprot.org/core/author | "Enokizono T."xsd:string |
| http://purl.uniprot.org/citations/28808579 | http://purl.uniprot.org/core/author | "Enokizono T."xsd:string |