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RFC1 repeat expansion in Japanese patients with late-onset cerebellar ataxia

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Thus, our study adds to the growing body of evidence supporting the clinical translation of targeting LDHB alone or combined with radiotherapy and other ferroptosis-inducing therapies

Loss of function mutations in RPL27 and RPS27 identified by whole-exome sequencing in Diamond-Blackfan anaemia

Chondrocyte-Specific Knockout of TSC-1 Leads to Congenital Spinal Deformity in Mice

Under pathological conditions (such as ischemia and hypoxia), transporter proteins are increased or decreased and become aberrantly activated or inactivated, causing metal overload or deficiency and affecting many cellular signaling