rs139751448
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Structural Insights into the Niemann-Pick C1 (NPC1)-Mediated Cholesterol Transfer and Ebola Infection.
|
27238017 |
2016 |
rs139751448
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening.
|
26981555 |
2016 |
rs139751448
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Identification of novel bile acids as biomarkers for the early diagnosis of Niemann-Pick C disease.
|
27139891 |
2016 |
rs139751448
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Ataxia, dystonia and myoclonus in adult patients with Niemann-Pick type C.
|
27581084 |
2016 |
rs139751448
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Observational cohort study of the natural history of Niemann-Pick disease type C in the UK: a 5-year update from the UK clinical database.
|
26666848 |
2015 |
rs139751448
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Niemann-Pick type C 1 function requires lumenal domain residues that mediate cholesterol-dependent NPC2 binding.
|
22065762 |
2011 |
rs139751448
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
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.
|
16126423 |
2006 |
rs139751448
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Subclinical course of adult visceral Niemann-Pick type C1 disease. A rare or underdiagnosed disorder?
|
16802107 |
2006 |
rs139751448
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Six novel NPC1 mutations in Chinese patients with Niemann-Pick disease type C.
|
15774455 |
2005 |
rs139751448
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlations.
|
16098014 |
2005 |
rs139751448
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1.
|
12955717 |
2003 |
rs139751448
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1.
|
12955717 |
2003 |
rs139751448
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Defective endocytic trafficking of NPC1 and NPC2 underlying infantile Niemann-Pick type C disease.
|
12554680 |
2003 |
rs139751448
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clinical-biochemical correlation in molecularly characterized patients with Niemann-Pick type C.
|
11545687 |
2002 |
rs139751448
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Clinical-biochemical correlation in molecularly characterized patients with Niemann-Pick type C.
|
11545687 |
2002 |
rs139751448
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Identification of novel mutations in the NPC1 gene in German patients with Niemann-Pick C disease.
|
12408188 |
2002 |
rs139751448
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
NPC1: Complete genomic sequence, mutation analysis, and characterization of haplotypes.
|
11754101 |
2002 |
rs139751448
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Niemann-Pick type C disease: mutations of NPC1 gene and evidence of abnormal expression of some mutant alleles in fibroblasts.
|
12401890 |
2002 |
rs139751448
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1.
|
11349231 |
2001 |
rs139751448
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations.
|
11479732 |
2001 |
rs139751448
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1.
|
11349231 |
2001 |
rs139751448
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop.
|
11333381 |
2001 |
rs139751448
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop.
|
11333381 |
2001 |
rs139751448
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Genotype-phenotype relationship of Niemann-Pick disease type C: a possible correlation between clinical onset and levels of NPC1 protein in isolated skin fibroblasts.
|
11182931 |
2000 |
rs139751448
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Niemann-Pick C1 disease: the I1061T substitution is a frequent mutant allele in patients of Western European descent and correlates with a classic juvenile phenotype.
|
10521297 |
1999 |