Varaico: Literature-Extracted Genetic Variants

Gene:SLC20A2
Variant:p.S508Splc
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SLC20A2

NM_001257180.2:p.S508Splc

Associated Papers

Co-occurrence of primary familial brain calcification from a likely pathogenic SLC20A2 variant and Alzheimer's disease biology.

Lee HJ et al.

Neurocase, 2025

Deep clinical, genetic, and serum biomarker profiling indicates glial and neuronal pathology in primary brain calcification.

Schwahn J et al.

Brain Communications, 2025

PSEN1/SLC20A2 double mutation causes early-onset Alzheimer's disease and primary familial brain calcification co-morbidity.

Hebestreit S et al.

Neurogenetics, 2023

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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."