Variant: rs104894457 

    present in Gene: NPC2;MIR4709
    present in Chromosome: 14
    Position on Chromosome: 74480707
    Alleles of this Variant: G/A

rs104894457 in NPC2;MIR4709 gene and NIEMANN-PICK DISEASE, TYPE C2 PMID 17470133 2007 Niemann-Pick C disease: functional characterization of three NPC2 mutations and clinical and molecular update on patients with NPC2.

PMID 25772320 2015 Niemann-Pick Type C-2 Disease: Identification by Analysis of Plasma Cholestane-3β,5α,6β-Triol and Further Insight into the Clinical Phenotype.

PMID 16126423 2006 Niemann-Pick C disease: use of denaturing high performance liquid chromatography for the detection of NPC1 and NPC2 genetic variations and impact on management of patients and families.