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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC20A2

Variant:p.R382*

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SLC20A2

NM_001257180.2:p.R382*

hg38:chr8:42437368 G>A

Associated Papers

Basal Ganglia and Prominent Cortical Contouring Calcification in SLC20A2-Related Primary Familial Brain Calcification.

Boudriot ET et al.

Movement Disorders Clinical Practice, 2025

39644228 (PubMed )

One Train May Hide Another: Two Cases of Co-Occurring Primary Familial Brain Calcification and Alzheimer's Disease.

Timmi A et al.

Journal of Molecular Neuroscience : Mn, 2024

38180527 (PubMed )

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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."