Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.
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Insufficiently evaluated pathogenic
(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)
Summary of published research, and additional commentary
Sass JO, Mohr V, Olbrich H, Engelke U, Horvath J, Fliegauf M, Loges NT,
Schweitzer-Krantz S, Moebus R, Weiler P, Kispert A, Superti-Furga A, Wevers RA,
Omran H. Mutations in ACY1, the gene encoding aminoacylase 1, cause a novel
inborn error of metabolism. Am J Hum Genet. 2006 Mar;78(3):401-9. Epub 2006 Jan
18. PubMed PMID: 16465618; PubMed Central PMCID: PMC1380284.
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