| Entry |
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|---|
| Name |
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| Type |
Loss of function
|
|---|
| Gene |
|
|---|
| Organism |
hsa_var Human gene variants (Homo sapiens)
|
|---|
| Variation |
|
|---|
| Network |
nt06539 Cytoskeleton in muscle cells |
|---|
| Disease |
| H00292 | Hypertrophic cardiomyopathy |
|
|---|
| Reference |
|
|---|
| Authors |
Olson TM, Karst ML, Whitby FG, Driscoll DJ |
|---|
| Title |
Myosin light chain mutation causes autosomal recessive cardiomyopathy with mid-cavitary hypertrophy and restrictive physiology. |
|---|
| Journal |
|
|---|
| Reference |
|
|---|
| Authors |
Kamien B, Clayton JS, Lee HS, Abeysuriya D, McNamara E, Martinovic J, Gonzales M, Melki J, Ravenscroft G |
|---|
| Title |
Bi-allelic MYH3 loss-of-function variants cause a lethal form of contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B. |
|---|
| Journal |
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|---|
| LinkDB |
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