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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC20A2

Variant:p.L127fs

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SLC20A2

NM_001257180.2:p.L127fs

hg38:chr8:42465828 CAG>N

Associated Papers

Skin calcium deposits in primary familial brain calcification: A novel potential biomarker.

Emmi A et al.

Annals of Clinical and Translational Neurology, 2025

39935191 (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."