Variant: rs121912698 

    present in Gene: ABHD14A-ACY1;ACY1
    present in Chromosome: 3
    Position on Chromosome: 51988821
    Alleles of this Variant: C/T

rs121912698 in ABHD14A-ACY1;ACY1 gene and Aminoacylase 1 deficiency PMID 21414403 2011 The molecular basis of aminoacylase 1 deficiency.

PMID 16274666 2005 Aminoacylase I deficiency: a novel inborn error of metabolism.

PMID 17562838 2007 Neurological findings in aminoacylase 1 deficiency.

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