Source:http://linkedlifedata.com/resource/lhgdn/association:23782
| Predicate | Object |
|---|---|
| lhgdn:found_in | |
| lhgdn:geneRifSource |
These results suggest that S44L in association with c.1687G > A (E563K) drops the functional level of spastin below a threshold limit sufficient to manifest hereditary spastic paraplegia.
|
| lhgdn:mesh_code |
D015419
|
| lhgdn:associationIdType | |
| lhgdn:umls_code |