Source:http://linkedlifedata.com/resource/lhgdn/association:49356
| Predicate | Object |
|---|---|
| lhgdn:found_in | |
| lhgdn:geneRifSource |
Two missense mutations, S48P substitution and I246M affecting highly conserved amino acids were linked to hereditary Hypertrophic cardiomyopathy characterized by early onset of symptoms, pronounced cardiac hypertrophy, and cardiac arrhythmias.
|
| lhgdn:mesh_code |
D006332
|
| lhgdn:associationIdType | |
| lhgdn:umls_code |