rs120074135
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
The National Niemann-Pick Type C1 Disease Database: correlation of lipid profiles, mutations, and biochemical phenotypes.
|
19744920 |
2010 |
rs120074135
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
The adult form of Niemann-Pick disease type C.
|
17003072 |
2007 |
rs120074135
|
|
T |
0.800 |
GeneticVariation |
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 |
rs120074135
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Genome sequencing in a case of Niemann-Pick type C.
|
27900365 |
2016 |
rs120074135
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Normalisation of brain spectroscopy findings in Niemann-Pick disease type C patients treated with miglustat.
|
26984608 |
2016 |
rs143124972
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Niemann-Pick Type C disease: characterizing lipid levels in patients with variant lysosomal cholesterol storage.
|
21245028 |
2011 |
rs143124972
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Use of miglustat in a child with late-infantile-onset Niemann-Pick disease type C and frequent seizures: a case report.
|
23146215 |
2012 |
rs143124972
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
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 |
rs143124972
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
The National Niemann-Pick Type C1 Disease Database: correlation of lipid profiles, mutations, and biochemical phenotypes.
|
19744920 |
2010 |
rs143124972
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1.
|
11349231 |
2001 |
rs143124972
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Mutations in NPC1 highlight a conserved NPC1-specific cysteine-rich domain.
|
10521290 |
1999 |
rs150334966
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Phenotypic variability of Niemann-Pick disease type C including a case with clinically pure schizophrenia: a case report.
|
30119649 |
2018 |
rs150334966
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1.
|
11349231 |
2001 |
rs1555631998
|
|
T |
0.800 |
GeneticVariation |
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 |
rs1555631998
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Structural Insights into the Niemann-Pick C1 (NPC1)-Mediated Cholesterol Transfer and Ebola Infection.
|
27238017 |
2016 |
rs1555631998
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
The NPC1 protein: structure implies function.
|
15465421 |
2004 |
rs1555631998
|
|
T |
0.800 |
GeneticVariation |
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 |
rs1555631998
|
|
T |
0.800 |
GeneticVariation |
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 |
rs1555631998
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
The natural history of Niemann-Pick disease type C in the UK.
|
17160617 |
2007 |
rs1555634422
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Identification of novel bile acids as biomarkers for the early diagnosis of Niemann-Pick C disease.
|
27139891 |
2016 |
rs1555634422
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Rare Loss-of-Function Variants in NPC1 Predispose to Human Obesity.
|
28130309 |
2017 |
rs1555634422
|
|
A |
0.800 |
GeneticVariation |
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 |
rs1555634422
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Structural Insights into the Niemann-Pick C1 (NPC1)-Mediated Cholesterol Transfer and Ebola Infection.
|
27238017 |
2016 |
rs1555634422
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Observational, retrospective study of a large cohort of patients with Niemann-Pick disease type C in the Czech Republic: a surprisingly stable diagnostic rate spanning almost 40 years.
|
25236789 |
2014 |
rs28942104
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
The National Niemann-Pick Type C1 Disease Database: correlation of lipid profiles, mutations, and biochemical phenotypes.
|
19744920 |
2010 |