Variant: rs61750426

present in Gene: PEX1;GATAD1 present in Chromosome: 7 Position on Chromosome: 92494497 Alleles of this Variant: T/-;TTT

rs61750426 in PEX1;GATAD1 gene and PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) PMID 21031596 2011 Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.

PMID 12032265 2002 PEX1 mutations in complementation group 1 of Zellweger spectrum patients correlate with severity of disease.

PMID 21846392 2011 Characterization of two common 5' polymorphisms in PEX1 and correlation to survival in PEX1 peroxisome biogenesis disorder patients.

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

PMID 12402331 2002 Novel PEX1 mutations and genotype-phenotype correlations in Australasian peroxisome biogenesis disorder patients.

PMID 16141001 2005 Genetic and clinical aspects of Zellweger spectrum patients with PEX1 mutations.

PMID 19105186 2009 Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.

rs61750426 in PEX1;GATAD1 gene and Peroxisome biogenesis disorders PMID 12032265 2002 PEX1 mutations in complementation group 1 of Zellweger spectrum patients correlate with severity of disease.