Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs386833649
rs386833649
PPT1
A 0.700 GeneticVariation CLINVAR Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. 21990111

2012
dbSNP: rs386833649
rs386833649
PPT1
A 0.700 GeneticVariation CLINVAR Identification of three novel mutations of the palmitoyl-protein thioesterase-1 (PPT1) gene in children with neuronal ceroid-lipofuscinosis. 10649502

2000
dbSNP: rs386833649
rs386833649
PPT1
A 0.700 GeneticVariation CLINVAR Neuronal ceroid lipofuscinoses: research update. 11073228

2000
dbSNP: rs386833649
rs386833649
PPT1
A 0.700 GeneticVariation CLINVAR Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S. 9664077

1998
dbSNP: rs386833649
rs386833649
PPT1
A 0.700 CausalMutation CLINVAR