Variant: rs267608183 

    present in Gene: PEX10
    present in Chromosome: 1
    Position on Chromosome: 2408451
    Alleles of this Variant: C/T

rs267608183 in PEX10 gene and PEROXISOME BIOGENESIS DISORDER 6B PMID 9683594 1998 Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders.

PMID 21031596 2011 Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

rs267608183 in PEX10 gene and Peroxisome Biogenesis Disorder, Complementation Group 7 PMID 10862081 2000 Phenotype-genotype relationships in PEX10-deficient peroxisome biogenesis disorder patients.

PMID 21031596 2011 Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.

PMID 9683594 1998 Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders.