| 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 |
Keyt LK, Duran JM, Bui QM, Chen C, Miyamoto MI, Silva Enciso J, Tardiff JC, Adler ED |
|---|
| Title |
Thin filament cardiomyopathies: A review of genetics, disease mechanisms, and emerging therapeutics. |
|---|
| Journal |
|
|---|
| Reference |
|
|---|
| Authors |
Bai F, Caster HM, Dawson JF, Kawai M |
|---|
| Title |
The immediate effect of HCM causing actin mutants E99K and A230V on actin-Tm-myosin interaction in thin-filament reconstituted myocardium. |
|---|
| Journal |
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|---|
| LinkDB |
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