Variant: rs766020928

present in Gene: PEX1;RBM48 present in Chromosome: 7 Position on Chromosome: 92528434 Alleles of this Variant: A/C;G

rs766020928 in PEX1;RBM48 gene and Infantile Refsum Disease (disorder) PMID 21031596 2011 Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.

rs766020928 in PEX1;RBM48 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.