Variant: rs267607235 

    present in Gene: MFSD8
    present in Chromosome: 4
    Position on Chromosome: 127921639
    Alleles of this Variant: G/A

rs267607235 in MFSD8 gene and Ceroid Lipofuscinosis, Neuronal, 7 PMID 19277732 2009 Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: a common theme emerging.

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 17564970 2007 The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter.

PMID 19177532 2009 Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis.

PMID 22612257 2012 Targeted next generation sequencing as a diagnostic tool in epileptic disorders.

PMID 18850119 2009 A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis.

rs267607235 in MFSD8 gene and Seizures PMID 19277732 2009 Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: a common theme emerging.

PMID 20826447 2010 Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis.

PMID 22668694 2012 Proteolytic cleavage of the disease-related lysosomal membrane glycoprotein CLN7.