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Spontaneous rupture of large arteries was not observed at all and, in particular, neither in the 6 patients with the COL1A1 p.(Arg312Cys) missense variant nor in 2 individuals with different COL5A1 glycine substitutions at the C-terminal domain (Additional Table 1), which represent variants previously associated with a possible higher risk of vascular events [16]
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Under physiologic conditions, mitophagy mediated by the PINK1/Parkin pathway maintains metabolic homeostasis by clearing damaged mitochondria and prevents genomic instability caused by excessive accumulation of ROS 55
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