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In cases of severe CS, advanced life support technologies and organ replacement are critical in sustaining life

Selenium (Se), an essential trace element, serves as a key regulator of systemic redox homeostasis through its incorporation into selenoproteins such as glutathione peroxidase (GPX), which are crucial for eliminating ROS and maintaining cellular antioxidant defenses [18, 19]

This variant arises from a frameshift mutation located midway within the spectrum of known RS-associated mutations, which shortens the CTD by 25 residues and reduces its net charge from +43 to +6 (Supplementary Fig

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