| Entry |
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| Name |
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| Type |
Loss of function
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| Gene |
CACNA1S calcium voltage-gated channel subunit alpha1 S [KO: K04857]
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| Organism |
hsa_var Human gene variants (Homo sapiens)
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| Variation |
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| Network |
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| Disease |
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| Reference |
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| Authors |
Maggi L, Bonanno S, Altamura C, Desaphy JF |
|---|
| Title |
Ion Channel Gene Mutations Causing Skeletal Muscle Disorders: Pathomechanisms and Opportunities for Therapy. |
|---|
| Journal |
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| Reference |
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|---|
| Authors |
Wu F, Mi W, Hernandez-Ochoa EO, Burns DK, Fu Y, Gray HF, Struyk AF, Schneider MF, Cannon SC |
|---|
| Title |
A calcium channel mutant mouse model of hypokalemic periodic paralysis. |
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| Journal |
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| LinkDB |
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