| Entry |
|
| Name |
|
| Type |
Gain of function
|
| Gene |
|
| Organism |
hsa_var Human gene variants (Homo sapiens)
|
| Variation |
|
| Network |
nt06539 Cytoskeleton in muscle cells |
| Disease |
| H00292 | Hypertrophic cardiomyopathy |
|
| Reference |
|
| Authors |
Kimura A |
| Title |
Molecular etiology and pathogenesis of hereditary cardiomyopathy. |
| Journal |
|
| Reference |
|
| Authors |
Satoh M, Takahashi M, Sakamoto T, Hiroe M, Marumo F, Kimura A |
| Title |
Structural analysis of the titin gene in hypertrophic cardiomyopathy: identification of a novel disease gene. |
| Journal |
|
| LinkDB |
|