Variant: rs144259891 

    present in Gene: PEX12
    present in Chromosome: 17
    Position on Chromosome: 35577895
    Alleles of this Variant: C/A;T

rs144259891 in PEX12 gene and PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER) PMID 9632816 1998 PEX12, the pathogenic gene of group III Zellweger syndrome: cDNA cloning by functional complementation on a CHO cell mutant, patient analysis, and characterization of PEX12p.

PMID 9792857 1998 Phenotype-genotype relationships in complementation group 3 of the peroxisome-biogenesis disorders.

PMID 9090384 1997 Isolation of the human PEX12 gene, mutated in group 3 of the peroxisome biogenesis disorders.

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

rs144259891 in PEX12 gene and PEROXISOME BIOGENESIS DISORDER 3B PMID 21031596 2011 Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.

PMID 9792857 1998 Phenotype-genotype relationships in complementation group 3 of the peroxisome-biogenesis disorders.

rs144259891 in PEX12 gene and Peroxisome biogenesis disorders PMID 9792857 1998 Phenotype-genotype relationships in complementation group 3 of the peroxisome-biogenesis disorders.

PMID 15542397 2004 The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum.

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