Source:http://linkedlifedata.com/resource/lhgdn/association:29436
| Predicate | Object |
|---|---|
| lhgdn:found_in | |
| lhgdn:geneRifSource |
There is considerable phenotypic heterogeneity arising from missense mutations, nonsense codons, amino acid substitutions, and polymorphisms in USH2A and ranges from the Usher syndrome, to non-syndromic retinitis pigmentosa, to unaffected subjects.
|
| lhgdn:mesh_code |
D052245
|
| lhgdn:associationIdType | |
| lhgdn:umls_code |