 | | VARIANT: 54205v1 | |
Entry |
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Name |
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Type |
Gain of function
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Gene |
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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 |
Fellner M, Parakra R, McDonald KO, Kass I, Jameson GNL, Wilbanks SM, Ledgerwood EC |
Title |
Altered structure and dynamics of pathogenic cytochrome c variants correlate with increased apoptotic activity. |
Journal |
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Reference |
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Authors |
De Rocco D, Cerqua C, Goffrini P, Russo G, Pastore A, Meloni F, Nicchia E, Moraes CT, Pecci A, Salviati L, Savoia A |
Title |
Mutations of cytochrome c identified in patients with thrombocytopenia THC4 affect both apoptosis and cellular bioenergetics. |
Journal |
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LinkDB |
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