Associated Papers
A Further Case Supporting BORCS8 as a Cause of an Infantile-Onset Neurodegenerative Disorder.
Abdel-Hamid MS et al.
Clinical Genetics, 2026
Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics.
De Pace R et al.
Brain : a Journal of Neurology, 2024
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