Source:http://linkedlifedata.com/resource/lhgdn/association:51390
| Predicate | Object |
|---|---|
| lhgdn:found_in | |
| lhgdn:geneRifSource |
we report a genotype-phenotype correlation demonstrating that heterozygous glycine substitutions in the triple-helix domain of COL6A1 are dominant and responsible for a milder Ullrich scleroatonic muscular dystrophy phenotype.
|
| lhgdn:mesh_code |
D009136
|
| lhgdn:associationIdType | |
| lhgdn:umls_code |