Source:http://linkedlifedata.com/resource/lhgdn/association:52328
| Predicate | Object |
|---|---|
| lhgdn:found_in | |
| lhgdn:geneRifSource |
Report on a large family with 11 patients with typical Czech dysplasia and sensorineural hearing loss/analysis documented the COL2A1 c.823C > T (R275C) mutation in all affected individuals.
|
| lhgdn:mesh_code |
D006319
|
| lhgdn:associationIdType | |
| lhgdn:umls_code |