Variant: rs104894178 

    present in Gene: PHYH
    present in Chromosome: 10
    Position on Chromosome: 13283695
    Alleles of this Variant: G/A

rs104894178 in PHYH gene and Refsum Disease PMID 14974078 2004 Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7).

PMID 9326939 1997 Identification of PAHX, a Refsum disease gene.

PMID 9326940 1997 Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene.

PMID 10767344 2000 Human phytanoyl-CoA hydroxylase: resolution of the gene structure and the molecular basis of Refsum's disease.

PMID 11555634 2001 Structure-function analysis of phytanoyl-CoA 2-hydroxylase mutations causing Refsum's disease.

PMID 10709665 1999 Phytanoyl-CoA hydroxylase deficiency. Enzymological and molecular basis of classical Refsum disease.

rs104894178 in PHYH gene and Retinitis Pigmentosa PMID 9326939 1997 Identification of PAHX, a Refsum disease gene.