Source:http://linkedlifedata.com/resource/lhgdn/association:10564
| Predicate | Object |
|---|---|
| lhgdn:found_in | |
| lhgdn:geneRifSource |
a patient with early onset, non fluctuating spinocerebellar ataxia carries a novel de novo missense mutation in this gene, p.R1664Q.
|
| lhgdn:mesh_code |
D020754
|
| lhgdn:associationIdType | |
| lhgdn:umls_code |