| http://purl.uniprot.org/citations/34925234 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/34925234 | http://www.w3.org/2000/01/rdf-schema#comment | "Activating variants in the receptor tyrosine kinase REarranged during Transfection (RET) cause multiple endocrine neoplasia type 2 (MEN 2), an autosomal dominantly inherited cancer-susceptibility syndrome. The variant c.166C>A, p.Leu56Met in RET was recently reported in two patients with medullary thyroid cancer (MTC). The presence of a pheochromocytoma in one of the patients, suggested a possible pathogenic role of the variant in MEN 2A. Here, we present clinical follow up of a Danish RET Leu56Met cohort. Patients were evaluated for signs of MEN 2 according to a set of predefined criteria. None of the seven patients in our cohort exhibited evidence of MEN 2. Furthermore, we found the Leu56Met variant in our in-house diagnostic cohort with an allele frequency of 0.59%, suggesting that it is a common variant in the population. Additionally, none of the patients who harbored the allele were listed in the Danish MTC and MEN 2 registries. In conclusion, our findings do not support a pathogenic role of the Leu56Met variant in MEN 2."xsd:string |
| http://purl.uniprot.org/citations/34925234 | http://purl.org/dc/terms/identifier | "doi:10.3389/fendo.2021.764512"xsd:string |
| http://purl.uniprot.org/citations/34925234 | http://purl.uniprot.org/core/author | "Hansen A.R."xsd:string |
| http://purl.uniprot.org/citations/34925234 | http://purl.uniprot.org/core/author | "Rasmussen A.K."xsd:string |
| http://purl.uniprot.org/citations/34925234 | http://purl.uniprot.org/core/author | "Vieira F.G."xsd:string |
| http://purl.uniprot.org/citations/34925234 | http://purl.uniprot.org/core/author | "Rossing M."xsd:string |
| http://purl.uniprot.org/citations/34925234 | http://purl.uniprot.org/core/author | "Godballe C."xsd:string |
| http://purl.uniprot.org/citations/34925234 | http://purl.uniprot.org/core/author | "Poulsen M.M."xsd:string |
| http://purl.uniprot.org/citations/34925234 | http://purl.uniprot.org/core/author | "Borgwardt L."xsd:string |
| http://purl.uniprot.org/citations/34925234 | http://purl.uniprot.org/core/author | "Mathiesen J.S."xsd:string |
| http://purl.uniprot.org/citations/34925234 | http://purl.uniprot.org/core/date | "2021"xsd:gYear |
| http://purl.uniprot.org/citations/34925234 | http://purl.uniprot.org/core/name | "Front Endocrinol (Lausanne)"xsd:string |
| http://purl.uniprot.org/citations/34925234 | http://purl.uniprot.org/core/pages | "764512"xsd:string |
| http://purl.uniprot.org/citations/34925234 | http://purl.uniprot.org/core/title | "Germline RET Leu56Met Variant Is Likely Not Causative of Multiple Endocrine Neoplasia Type 2."xsd:string |
| http://purl.uniprot.org/citations/34925234 | http://purl.uniprot.org/core/volume | "12"xsd:string |
| http://purl.uniprot.org/citations/34925234 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/34925234 |
| http://purl.uniprot.org/citations/34925234 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/34925234 |
| http://purl.uniprot.org/uniprot/#_F5CNE9-mappedCitation-34925234 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/34925234 |
| http://purl.uniprot.org/uniprot/#_B4DGX8-mappedCitation-34925234 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/34925234 |
| http://purl.uniprot.org/uniprot/#_F8TLS5-mappedCitation-34925234 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/34925234 |
| http://purl.uniprot.org/uniprot/#_F8TLW0-mappedCitation-34925234 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/34925234 |
| http://purl.uniprot.org/uniprot/#_M9Z0T2-mappedCitation-34925234 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/34925234 |
| http://purl.uniprot.org/uniprot/#_O43519-mappedCitation-34925234 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/34925234 |
| http://purl.uniprot.org/uniprot/#_T1SG88-mappedCitation-34925234 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/34925234 |