Variant: rs1055204017 

    present in Gene: NPC1
    present in Chromosome: 18
    Position on Chromosome: 23552736
    Alleles of this Variant: C/G;T

rs1055204017 in NPC1 gene and Niemann-Pick Disease, Type C1 PMID 25425405 2014 Early co-occurrence of a neurologic-psychiatric disease pattern in Niemann-Pick type C disease: a retrospective Swiss cohort study.

PMID 19718781 2009 Antisense oligonucleotide treatment for a pseudoexon-generating mutation in the NPC1 gene causing Niemann-Pick type C disease.

PMID 23593294 2013 Mitotic spindle defects and chromosome mis-segregation induced by LDL/cholesterol-implications for Niemann-Pick C1, Alzheimer's disease, and atherosclerosis.

PMID 20718790 2011 Molecular analysis of 30 Niemann-Pick type C patients from Spain.

PMID 26981555 2016 Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening.

PMID 24506780 2014 Antisense mediated splicing modulation for inherited metabolic diseases: challenges for delivery.

PMID 28167839 2017 New murine Niemann-Pick type C models bearing a pseudoexon-generating mutation recapitulate the main neurobehavioural and molecular features of the disease.