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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:VAC14

Variant:p.R181Q

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VAC14

NM_018052.5:p.R181Q

hg38:chr16:70784165 C>T

Associated Papers

Early Onset Dystonia, Parkinsonism, and Spasticity in Siblings with VAC14-Associated Neurodegeneration: A Case Report and Literature Review.

Lindsay R et al.

Movement Disorders Clinical Practice, 2025

40888261 (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."