Variant: rs104886460 

    present in Gene: GBA
    present in Chromosome: 1
    Position on Chromosome: 155240629
    Alleles of this Variant: C/A;T

rs104886460 in GBA gene and Gaucher Disease PMID 23430873 2012 A twelve-year follow-up study on a case of early-onset parkinsonism preceding clinical manifestation of Gaucher disease.

PMID 1558964 1992 Mutations in Jewish patients with Gaucher disease.

rs104886460 in GBA gene and Gaucher Disease, Type 1 PMID 1558964 1992 Mutations in Jewish patients with Gaucher disease.

PMID 25127542 2014 Long term effects of enzyme replacement therapy in an Italian cohort of type 3 Gaucher patients.

PMID 12204005 2002 Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients.

PMID 20729108 2011 Clinical and genetic characteristics of Korean patients with Gaucher disease.

PMID 11933202 2002 The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease.