Varaico: Literature-Extracted Genetic Variants

Gene:ACY1
Variant:p.P369insFs
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ACY1

NM_000666.3:p.P369insFs

Associated Papers

Mutations in ACY1, the gene encoding aminoacylase 1, cause a novel inborn error of metabolism.

Sass JO et al.

American Journal of Human Genetics, 2006

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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."