Source:http://linkedlifedata.com/resource/lhgdn/association:2477
| Predicate | Object |
|---|---|
| lhgdn:found_in | |
| lhgdn:geneRifSource |
We report a case of Muir-Torre syndrome associated with intrahepatic cholangiocarcinoma, a location not previously described, and associated with a novel missense mutation of the MSH2 gene (c.2026T > C), predicted to disrupt the function of the gene.
|
| lhgdn:mesh_code |
D055653
|
| lhgdn:associationIdType | |
| lhgdn:umls_code |