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| http://purl.uniprot.org/citations/11134235 | http://purl.uniprot.org/core/author | "Munnich A."xsd:string |
| http://purl.uniprot.org/citations/11134235 | http://purl.uniprot.org/core/author | "Saudubray J.-M."xsd:string |
| http://purl.uniprot.org/citations/11134235 | http://purl.uniprot.org/core/date | "2001"xsd:gYear |
| http://purl.uniprot.org/uniprot/Q9Y672 | http://purl.uniprot.org/core/citation | http://purl.uniprot.org/citations/11134235 |
| http://purl.uniprot.org/citations/11134235 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/11134235 |
| http://purl.uniprot.org/citations/11134235 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/uniprot/Q9Y672#attribution-0ECF654A5CAEDFCDEA59EAAB76AB6505 | http://purl.uniprot.org/core/source | http://purl.uniprot.org/citations/11134235 |
| http://purl.uniprot.org/citations/11134235 | http://purl.uniprot.org/core/author | "Journel H."xsd:string |
| http://purl.uniprot.org/citations/11134235 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/11134235 |
| http://purl.uniprot.org/citations/11134235 | http://purl.uniprot.org/core/author | "Gabriel B.M."xsd:string |
| http://purl.uniprot.org/citations/11134235 | http://purl.uniprot.org/core/author | "Pedespan D."xsd:string |
| http://purl.uniprot.org/citations/11134235 | http://purl.uniprot.org/core/author | "Kretz M."xsd:string |
| http://purl.uniprot.org/citations/11134235 | http://purl.uniprot.org/core/pages | "14-19"xsd:string |
| http://purl.uniprot.org/citations/11134235 | http://purl.uniprot.org/core/author | "Drouin V."xsd:string |
| http://purl.uniprot.org/citations/11134235 | http://purl.uniprot.org/core/author | "Cormier-Daire V."xsd:string |
| http://purl.uniprot.org/citations/11134235 | http://purl.uniprot.org/core/author | "van Schaftingen E."xsd:string |
| http://purl.uniprot.org/citations/11134235 | http://purl.uniprot.org/core/volume | "38"xsd:string |
| http://purl.uniprot.org/citations/11134235 | http://purl.uniprot.org/core/author | "Sarda P."xsd:string |
| http://purl.uniprot.org/citations/11134235 | http://purl.uniprot.org/core/author | "Chabrol B."xsd:string |
| http://purl.uniprot.org/citations/11134235 | http://purl.uniprot.org/core/author | "Seta N."xsd:string |
| http://purl.uniprot.org/citations/11134235 | http://purl.uniprot.org/core/author | "Matthijs G."xsd:string |
| http://purl.uniprot.org/citations/11134235 | http://purl.uniprot.org/core/author | "Schmitz J."xsd:string |
| http://purl.uniprot.org/citations/11134235 | http://purl.uniprot.org/core/author | "Koerner C."xsd:string |
| http://purl.uniprot.org/citations/11134235 | http://purl.uniprot.org/core/name | "J. Med. Genet."xsd:string |