Source:http://linkedlifedata.com/resource/lhgdn/association:47789
| Predicate | Object |
|---|---|
| lhgdn:found_in | |
| lhgdn:geneRifSource |
Mutations in the EYA1 gene on the chromosome band 8q13.3, have been identified to be the underlying genetic defects/found a Korean family with BOR syndrome and identified a novel insertion mutation (c.1474 _ 1475insC; R492PfsX40) in the EYA1 gene.
|
| lhgdn:mesh_code |
D019280
|
| lhgdn:associationIdType | |
| lhgdn:umls_code |