Variant: rs61752129 

    present in Gene: PEX26
    present in Chromosome: 22
    Position on Chromosome: 18078405
    Alleles of this Variant: C/-;CC

rs61752129 in PEX26 gene and PEROXISOME BIOGENESIS DISORDER 7B PMID 12851857 2003 Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation.

PMID 16257970 2006 Mutations in the peroxin Pex26p responsible for peroxisome biogenesis disorders of complementation group 8 impair its stability, peroxisomal localization, and interaction with the Pex1p x Pex6p complex.

rs61752129 in PEX26 gene and PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP A PMID 16257970 2006 Mutations in the peroxin Pex26p responsible for peroxisome biogenesis disorders of complementation group 8 impair its stability, peroxisomal localization, and interaction with the Pex1p x Pex6p complex.

PMID 12851857 2003 Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation.

rs61752129 in PEX26 gene and Peroxisome biogenesis disorders PMID 19877282 2010 Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients.

PMID 16257970 2006 Mutations in the peroxin Pex26p responsible for peroxisome biogenesis disorders of complementation group 8 impair its stability, peroxisomal localization, and interaction with the Pex1p x Pex6p complex.

PMID 12851857 2003 Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation.