Associated Papers
Adenine phosphoribosyltransferase (APRT) deficiency: an increasingly recognized disease.
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International Urology and Nephrology, 2025
Genetic Mutations in Cell Junction Proteins Associated with Brain Calcification.
Yang D et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2025
Biallelic loss-of-function mutations in JAM2 cause primary familial brain calcification.
Cen Z et al.
Brain : a Journal of Neurology, 2020
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