Varaico: Literature-Extracted Genetic Variants

Gene:ACY1
Variant:p.R109G
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ACY1

NM_000666.3:p.R109G

Associated Papers

Expanding the phenotype in aminoacylase 1 (ACY1) deficiency: characterization of the molecular defect in a 63-year-old woman with generalized dystonia.

Sass JO et al.

Metabolic Brain Disease, 2016

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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."