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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:XPR1

Variant:p.Y139C

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XPR1

NM_004736.4:p.Y139C

hg38:chr1:180803580 A>G

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 )

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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."