Associated Papers
Expanding the phenotype associated with biallelic SLC20A2 variants.
D'Onofrio G et al.
European Journal of Human Genetics : Ejhg, 2023
Underestimated disease prevalence and severe phenotypes in patients with biallelic variants: A cohort study of primary familial brain calcification from China.
Chen S et al.
Parkinsonism & Related Disorders, 2019
Primary brain calcification: an international study reporting novel variants and associated phenotypes.
Ramos EM et al.
European Journal of Human Genetics : Ejhg, 2018
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