| http://purl.uniprot.org/citations/31591141 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/31591141 | http://www.w3.org/2000/01/rdf-schema#comment | "Germline mutations of the APC gene, which encodes a multidomain protein of 2843 amino acid residues, cause familial adenomatous polyposis (FAP). Three FAP clinical variants are correlated with the location of APC mutations: (1) classic FAP with profuse polyposis (>1000 adenomas), associated with mutations from codon 1250 to 1424; (2) attenuated FAP (<100 adenomas), associated with mutations at APC extremities (before codon 157 and after codon 1595); (3) classic FAP with intermediate colonic polyposis (100-1000 adenomas), associated with mutations located in the remaining part of APC In an effort to decipher the clinical phenotype associated with APC C-terminal germline truncating mutations in patients with FAP, after screening APC mutations in one family whose members (n=4) developed gastric polyposis, colon oligo-polyposis and desmoid tumours, we performed a literature meta-analysis of clinically characterised patients (n=97) harbouring truncating mutations in APC C-terminus. The APC distal mutations identified in this study cluster with a phenotype characterised by colon oligo-polyposis, diffuse gastric polyposis and desmoid tumours. In conclusion, we describe a novel FAP clinical variant, which we propose to refer to as Gastric Polyposis and Desmoid FAP, that may require tailored management."xsd:string |
| http://purl.uniprot.org/citations/31591141 | http://purl.org/dc/terms/identifier | "doi:10.1136/jmedgenet-2019-106299"xsd:string |
| http://purl.uniprot.org/citations/31591141 | http://purl.uniprot.org/core/author | "Stella A."xsd:string |
| http://purl.uniprot.org/citations/31591141 | http://purl.uniprot.org/core/author | "Grossi V."xsd:string |
| http://purl.uniprot.org/citations/31591141 | http://purl.uniprot.org/core/author | "Simone C."xsd:string |
| http://purl.uniprot.org/citations/31591141 | http://purl.uniprot.org/core/author | "Resta N."xsd:string |
| http://purl.uniprot.org/citations/31591141 | http://purl.uniprot.org/core/author | "Fasano C."xsd:string |
| http://purl.uniprot.org/citations/31591141 | http://purl.uniprot.org/core/author | "Forte G."xsd:string |
| http://purl.uniprot.org/citations/31591141 | http://purl.uniprot.org/core/author | "Lepore Signorile M."xsd:string |
| http://purl.uniprot.org/citations/31591141 | http://purl.uniprot.org/core/author | "Sanese P."xsd:string |
| http://purl.uniprot.org/citations/31591141 | http://purl.uniprot.org/core/author | "Cariola F."xsd:string |
| http://purl.uniprot.org/citations/31591141 | http://purl.uniprot.org/core/author | "Disciglio V."xsd:string |
| http://purl.uniprot.org/citations/31591141 | http://purl.uniprot.org/core/author | "Lolli I."xsd:string |
| http://purl.uniprot.org/citations/31591141 | http://purl.uniprot.org/core/author | "Lotesoriere C."xsd:string |
| http://purl.uniprot.org/citations/31591141 | http://purl.uniprot.org/core/date | "2020"xsd:gYear |
| http://purl.uniprot.org/citations/31591141 | http://purl.uniprot.org/core/name | "J Med Genet"xsd:string |
| http://purl.uniprot.org/citations/31591141 | http://purl.uniprot.org/core/pages | "356-360"xsd:string |
| http://purl.uniprot.org/citations/31591141 | http://purl.uniprot.org/core/title | "Gastric polyposis and desmoid tumours as a new familial adenomatous polyposis clinical variant associated with APC mutation at the extreme 3'-end."xsd:string |
| http://purl.uniprot.org/citations/31591141 | http://purl.uniprot.org/core/volume | "57"xsd:string |
| http://purl.uniprot.org/citations/31591141 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/31591141 |
| http://purl.uniprot.org/citations/31591141 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/31591141 |
| http://purl.uniprot.org/uniprot/#_A0A1Y6IM53-mappedCitation-31591141 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/31591141 |
| http://purl.uniprot.org/uniprot/#_A0A1Y6IM71-mappedCitation-31591141 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/31591141 |
| http://purl.uniprot.org/uniprot/#_A0A1Y6IM94-mappedCitation-31591141 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/31591141 |