| http://purl.uniprot.org/citations/9584079 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/9584079 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/9584079 | http://www.w3.org/2000/01/rdf-schema#comment | "Waardenburg Syndrome (WS) is an autosomal-dominant disorder phenotypically characterized by sensorineural hearing loss and pigmentary disturbances. Presence of dystopia canthorum is indicative of WS type 1 and results from defects in the PAX3 gene, whereas normally located medial canthi is characteristic of type 2 WS (WS2) and is associated with defects in the microphthalmia-associated transcription factor (MIFT) gene. Here a neutral polymorphism is reported in the PAX3 gene (T315K) in a family with WS2."xsd:string |
| http://purl.uniprot.org/citations/9584079 | http://purl.org/dc/terms/identifier | "doi:10.1006/mcpr.1997.0149"xsd:string |
| http://purl.uniprot.org/citations/9584079 | http://purl.org/dc/terms/identifier | "doi:10.1006/mcpr.1997.0149"xsd:string |
| http://purl.uniprot.org/citations/9584079 | http://purl.uniprot.org/core/author | "Kim E."xsd:string |
| http://purl.uniprot.org/citations/9584079 | http://purl.uniprot.org/core/author | "Kim E."xsd:string |
| http://purl.uniprot.org/citations/9584079 | http://purl.uniprot.org/core/author | "Wang C."xsd:string |
| http://purl.uniprot.org/citations/9584079 | http://purl.uniprot.org/core/author | "Wang C."xsd:string |
| http://purl.uniprot.org/citations/9584079 | http://purl.uniprot.org/core/author | "Lalwani A.K."xsd:string |
| http://purl.uniprot.org/citations/9584079 | http://purl.uniprot.org/core/author | "Lalwani A.K."xsd:string |
| http://purl.uniprot.org/citations/9584079 | http://purl.uniprot.org/core/author | "Wilcox E.R."xsd:string |
| http://purl.uniprot.org/citations/9584079 | http://purl.uniprot.org/core/author | "Wilcox E.R."xsd:string |
| http://purl.uniprot.org/citations/9584079 | http://purl.uniprot.org/core/author | "Smith T.N."xsd:string |
| http://purl.uniprot.org/citations/9584079 | http://purl.uniprot.org/core/author | "Smith T.N."xsd:string |
| http://purl.uniprot.org/citations/9584079 | http://purl.uniprot.org/core/author | "Attaie A."xsd:string |
| http://purl.uniprot.org/citations/9584079 | http://purl.uniprot.org/core/author | "Attaie A."xsd:string |
| http://purl.uniprot.org/citations/9584079 | http://purl.uniprot.org/core/date | "1998"xsd:gYear |
| http://purl.uniprot.org/citations/9584079 | http://purl.uniprot.org/core/date | "1998"xsd:gYear |
| http://purl.uniprot.org/citations/9584079 | http://purl.uniprot.org/core/name | "Mol. Cell. Probes"xsd:string |
| http://purl.uniprot.org/citations/9584079 | http://purl.uniprot.org/core/name | "Mol. Cell. Probes"xsd:string |
| http://purl.uniprot.org/citations/9584079 | http://purl.uniprot.org/core/pages | "55-57"xsd:string |
| http://purl.uniprot.org/citations/9584079 | http://purl.uniprot.org/core/pages | "55-57"xsd:string |
| http://purl.uniprot.org/citations/9584079 | http://purl.uniprot.org/core/title | "A PAX3 polymorphism (T315K) in a family exhibiting Waardenburg syndrome type 2."xsd:string |
| http://purl.uniprot.org/citations/9584079 | http://purl.uniprot.org/core/title | "A PAX3 polymorphism (T315K) in a family exhibiting Waardenburg syndrome type 2."xsd:string |