Variant: rs1563366896 

    present in Gene: HGSNAT
    present in Chromosome: 8
    Position on Chromosome: 43169216
    Alleles of this Variant: C/T

rs1563366896 in HGSNAT gene and MPS III C PMID 18024218 2008 Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands.

rs1563366896 in HGSNAT gene and Mucopolysaccharidosis III PMID 18024218 2008 Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands.

PMID 26287674 2015 Evaluation of Aminoglycoside and Non-Aminoglycoside Compounds for Stop-Codon Readthrough Therapy in Four Lysosomal Storage Diseases.

rs1563366896 in HGSNAT gene and RETINITIS PIGMENTOSA 73 PMID 18024218 2008 Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands.