Source:http://linkedlifedata.com/resource/lhgdn/association:43508
| Predicate | Object |
|---|---|
| lhgdn:found_in | |
| lhgdn:geneRifSource |
169 unrelated individuals suspected of having neurofibromatosis type I (NF1) were referred for NF1 diagnostic testing/disease causing mutations were identified in 109 (64%) cases/comprised 88 sequence alterations, of which 57 were novel.
|
| lhgdn:mesh_code |
D009456
|
| lhgdn:associationIdType | |
| lhgdn:umls_code |