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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC20A2

Variant:p.R71L

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SLC20A2

NM_001257180.2:p.R71L

hg38:chr8:42472179 C>A

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

40251908 (PubMed )

Genetic updates on paroxysmal dyskinesias.

Liao JY et al.

Journal of Neural Transmission (vienna, Austria : 1996), 2021

33929620 (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."