Variant: rs61750427 

    present in Gene: GATAD1;PEX1
    present in Chromosome: 7
    Position on Chromosome: 92494357
    Alleles of this Variant: A/G;T

rs61750427 in GATAD1;PEX1 gene and HEIMLER SYNDROME 1 PMID 27302843 2016 Spectrum of PEX1 and PEX6 variants in Heimler syndrome.

PMID 16088892 2005 Novel PEX1 coding mutations and 5' UTR regulatory polymorphisms.

PMID 26387595 2015 Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6.

rs61750427 in GATAD1;PEX1 gene and Infantile Refsum Disease (disorder) PMID 11439091 2001 Phenotype-genotype relationships in peroxisome biogenesis disorders of PEX1-defective complementation group 1 are defined by Pex1p-Pex6p interaction.

PMID 16088892 2005 Novel PEX1 coding mutations and 5' UTR regulatory polymorphisms.

PMID 9398847 1997 Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders.

PMID 9539740 1998 Human PEX1 cloned by functional complementation on a CHO cell mutant is responsible for peroxisome-deficient Zellweger syndrome of complementation group I.