Variant: rs104894060 

    present in Gene: CLN8
    present in Chromosome: 8
    Position on Chromosome: 1780316
    Alleles of this Variant: C/T

rs104894060 in CLN8 gene and CEROID LIPOFUSCINOSIS, NEURONAL, 8 PMID 19807737 2010 Novel CLN8 mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis.

PMID 26443629 2016 Novel missense mutation in CLN8 in late infantile neuronal ceroid lipofuscinosis: The first report of a CLN8 mutation in Japan.

PMID 19431184 2009 A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function.

PMID 21990111 2012 Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.

PMID 19201763 2009 Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.

PMID 15160397 2004 Localization of wild-type and mutant neuronal ceroid lipofuscinosis CLN8 proteins in non-neuronal and neuronal cells.

PMID 15024724 2004 Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy.

PMID 16570191 2006 Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: Another genetic hit in the Mediterranean.

rs104894060 in CLN8 gene and Neuronal Ceroid-Lipofuscinoses PMID 19807737 2010 Novel CLN8 mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis.

PMID 23374165 2013 Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy.

PMID 25326637 2014 Clinical exome sequencing for genetic identification of rare Mendelian disorders.

PMID 15024724 2004 Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy.