Variant: rs1043984708 

    present in Gene: MFSD8
    present in Chromosome: 4
    Position on Chromosome: 127920794
    Alleles of this Variant: G/A;T

rs1043984708 in MFSD8 gene and Ceroid Lipofuscinosis, Neuronal, 7 PMID 18850119 2009 A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis.

PMID 19277732 2009 Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: a common theme emerging.

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

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

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 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.