Source:http://linkedlifedata.com/resource/lhgdn/association:60011
| Predicate | Object |
|---|---|
| lhgdn:found_in | |
| lhgdn:geneRifSource |
The diagnosis of myotubular myopathy was confirmed by genetic analysis revealing a novel frameshift mutation (1314-1315insT) of the myotubularin-coding MTM1 gene.
|
| lhgdn:mesh_code |
D020914
|
| lhgdn:associationIdType | |
| lhgdn:umls_code |