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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC20A2

Variant:p.R553fs

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SLC20A2

NM_001257180.2:p.R553fs

hg38:chr8:42430116 TCT>N

Associated Papers

Adult-Onset Tourettism in SLC20A2-Associated Primary Familial Brain Calcification.

Reyes NGD et al.

Movement Disorders Clinical Practice, 2023

37476312 (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."