Source:http://linkedlifedata.com/resource/lhgdn/association:36512
| Predicate | Object |
|---|---|
| lhgdn:found_in | |
| lhgdn:geneRifSource |
screen of 247 branchio-oto-renal syndrome families detected five novel SIX1 mutations (c.50T > A, c.218A > C, c.317T > G, c.329G > A, c.334C > T) and one previously reported mutation (c.328C > T) seen in 5 unrelated families
|
| lhgdn:mesh_code |
D019280
|
| lhgdn:associationIdType | |
| lhgdn:umls_code |