Varaico: Literature-Extracted Genetic Variants

Gene:SLC20A2
Variant:p.C597Y
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SLC20A2

NM_001257180.2:p.C597Y

Associated Papers

The Genetic and Phenotypic Spectrum of Primary Brain Calcification in a Large Cohort from China.

Lin Z et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2025

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

Novel mutation of SLC20A2 in a Chinese family with primary familial brain calcification.

Liu X et al.

Journal of the Neurological Sciences, 2016

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."