| http://purl.uniprot.org/citations/11754059 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/11754059 | http://www.w3.org/2000/01/rdf-schema#comment | "We report two patients with clinical and radiological findings of achondroplasia, who had the most common FGFR3 mutation occurring in thanatophoric dysplasia type I and hypochondroplasia, respectively. Thanatophoric dysplasia is usually a lethal condition, but the patient carrying this mutation is alive and presents a medical history similar to that of patients with achondroplasia. The events leading to such a discrepancy between genotype and phenotype are unclear. These rare cases may influence an appropriate medical and genetic counseling."xsd:string |
| http://purl.uniprot.org/citations/11754059 | http://purl.org/dc/terms/identifier | "doi:10.1002/ajmg.10092"xsd:string |
| http://purl.uniprot.org/citations/11754059 | http://purl.uniprot.org/core/author | "Baldi M."xsd:string |
| http://purl.uniprot.org/citations/11754059 | http://purl.uniprot.org/core/author | "Concolino D."xsd:string |
| http://purl.uniprot.org/citations/11754059 | http://purl.uniprot.org/core/author | "Baffico M."xsd:string |
| http://purl.uniprot.org/citations/11754059 | http://purl.uniprot.org/core/author | "Camera G."xsd:string |
| http://purl.uniprot.org/citations/11754059 | http://purl.uniprot.org/core/author | "Mastroiacovo P."xsd:string |
| http://purl.uniprot.org/citations/11754059 | http://purl.uniprot.org/core/author | "Strisciuglio G."xsd:string |
| http://purl.uniprot.org/citations/11754059 | http://purl.uniprot.org/core/date | "2001"xsd:gYear |
| http://purl.uniprot.org/citations/11754059 | http://purl.uniprot.org/core/name | "Am J Med Genet"xsd:string |
| http://purl.uniprot.org/citations/11754059 | http://purl.uniprot.org/core/pages | "277-281"xsd:string |
| http://purl.uniprot.org/citations/11754059 | http://purl.uniprot.org/core/title | "Occurrence of thanatophoric dysplasia type I (R248C) and hypochondroplasia (N540K) mutations in two patients with achondroplasia phenotype."xsd:string |
| http://purl.uniprot.org/citations/11754059 | http://purl.uniprot.org/core/volume | "104"xsd:string |
| http://purl.uniprot.org/citations/11754059 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/11754059 |
| http://purl.uniprot.org/citations/11754059 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/11754059 |
| http://purl.uniprot.org/uniprot/#_A0A5P8NAS4-mappedCitation-11754059 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/11754059 |
| http://purl.uniprot.org/uniprot/#_A0A3S5WLI4-mappedCitation-11754059 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/11754059 |
| http://purl.uniprot.org/uniprot/#_A0A3S5XAL5-mappedCitation-11754059 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/11754059 |
| http://purl.uniprot.org/uniprot/#_A0N9W0-mappedCitation-11754059 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/11754059 |
| http://purl.uniprot.org/uniprot/#_A8E633-mappedCitation-11754059 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/11754059 |
| http://purl.uniprot.org/uniprot/#_Q0IJ44-mappedCitation-11754059 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/11754059 |
| http://purl.uniprot.org/uniprot/#_I6LM06-mappedCitation-11754059 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/11754059 |
| http://purl.uniprot.org/uniprot/#_P22607-mappedCitation-11754059 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/11754059 |
| http://purl.uniprot.org/uniprot/#_Q96T34-mappedCitation-11754059 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/11754059 |