Source:http://linkedlifedata.com/resource/lhgdn/association:364
| Predicate | Object |
|---|---|
| lhgdn:found_in | |
| lhgdn:geneRifSource |
The first evidence of a mutation in the splicing site of the SBF2 gene, confirming that mutations in the SBF2 gene are causative of the CMT4B2 subtype of Charcot-Marie-Tooth disease.
|
| lhgdn:mesh_code |
D002607
|
| lhgdn:associationIdType | |
| lhgdn:umls_code |