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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CANX

Variant:p.V18F

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CANX

NM_001746.4:p.V18F

hg38:chr5:179705733 G>T

Associated Papers

Biosynthesis of the dystonia-associated AAA+ ATPase torsinA at the endoplasmic reticulum.

Callan AC et al.

The Biochemical Journal, 2007

17037984 (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."