Variant: rs137852700 

    present in Gene: PPT1
    present in Chromosome: 1
    Position on Chromosome: 40089495
    Alleles of this Variant: G/A;C

rs137852700 in PPT1 gene and CEROID LIPOFUSCINOSIS, NEURONAL, 1 PMID 9425237 1998 Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits.

PMID 23539563 2013 The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis.

PMID 9664077 1998 Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S.

rs137852700 in PPT1 gene and Neuronal Ceroid-Lipofuscinoses PMID 9425237 1998 Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits.

PMID 9664077 1998 Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S.

PMID 25574475 2014 Mice homozygous for c.451C>T mutation in Cln1 gene recapitulate INCL phenotype.