Variant: rs756198538

present in Gene: ASPA;SPATA22 present in Chromosome: 17 Position on Chromosome: 3481603 Alleles of this Variant: -/A

rs756198538 in ASPA;SPATA22 gene and Canavan Disease PMID 10407784 1999 The spectrum of mutations of the aspartoacylase gene in Canavan disease in non-Jewish patients.

PMID 12638939 2002 Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease.

rs756198538 in ASPA;SPATA22 gene and Canavan Disease, Familial Form PMID 10407784 1999 The spectrum of mutations of the aspartoacylase gene in Canavan disease in non-Jewish patients.

PMID 10909858 2000 Mutation detection in the aspartoacylase gene in 17 patients with Canavan disease: four new mutations in the non-Jewish population.