| Entry |
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| Name |
TNNT3 gain of function mutation
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| Type |
Gain of function
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| Gene |
TNNT3 troponin T, fast skeletal muscle isoform 8 [KO: K12046]
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| Organism |
hsa_var Human gene variants (Homo sapiens)
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| Variation |
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| Network |
nt06539 Cytoskeleton in muscle cells |
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| Disease |
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| Reference |
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| Authors |
Robinson P, Lipscomb S, Preston LC, Altin E, Watkins H, Ashley CC, Redwood CS |
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| Title |
Mutations in fast skeletal troponin I, troponin T, and beta-tropomyosin that cause distal arthrogryposis all increase contractile function. |
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| Journal |
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| LinkDB |
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