Variant: rs121912701 

    present in Gene: ACY1;ABHD14A-ACY1
    present in Chromosome: 3
    Position on Chromosome: 51989026
    Alleles of this Variant: G/A

rs121912701 in ACY1;ABHD14A-ACY1 gene and Aminoacylase 1 deficiency PMID 16274666 2005 Aminoacylase I deficiency: a novel inborn error of metabolism.

PMID 16465618 2006 Mutations in ACY1, the gene encoding aminoacylase 1, cause a novel inborn error of metabolism.

PMID 21414403 2011 The molecular basis of aminoacylase 1 deficiency.

PMID 17562838 2007 Neurological findings in aminoacylase 1 deficiency.