rs80358254
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Normalisation of brain spectroscopy findings in Niemann-Pick disease type C patients treated with miglustat.
|
26984608 |
2016 |
rs80358254
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Structural Insights into the Niemann-Pick C1 (NPC1)-Mediated Cholesterol Transfer and Ebola Infection.
|
27238017 |
2016 |
rs80358254
|
|
G |
0.800 |
GeneticVariation |
CLINVAR |
Central cholinergic dysfunction in the adult form of Niemann Pick disease type C: a further link with Alzheimer's disease?
|
24570279 |
2014 |
rs80358254
|
|
G |
0.800 |
GeneticVariation |
CLINVAR |
Niemann-Pick type C is frequent in adult ataxia with cognitive decline and vertical gaze palsy.
|
23427322 |
2013 |
rs80358254
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Niemann-Pick type C is frequent in adult ataxia with cognitive decline and vertical gaze palsy.
|
23427322 |
2013 |
rs80358254
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Molecular analysis of 30 Niemann-Pick type C patients from Spain.
|
20718790 |
2011 |
rs80358254
|
|
G |
0.800 |
GeneticVariation |
CLINVAR |
Molecular analysis of 30 Niemann-Pick type C patients from Spain.
|
20718790 |
2011 |
rs80358254
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
24 month-treatment with miglustat of three patients with Niemann-Pick disease type C: follow up using brain spectroscopy.
|
19013089 |
2009 |
rs80358254
|
|
G |
0.800 |
GeneticVariation |
CLINVAR |
Saccades in adult Niemann-Pick disease type C reflect frontal, brainstem, and biochemical deficits.
|
19307542 |
2009 |
rs80358254
|
|
G |
0.800 |
GeneticVariation |
CLINVAR |
Gender dimorphism in siblings with schizophrenia-like psychosis due to Niemann-Pick disease type C.
|
19609713 |
2009 |
rs80358254
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Saccades in adult Niemann-Pick disease type C reflect frontal, brainstem, and biochemical deficits.
|
19307542 |
2009 |
rs80358254
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Gender dimorphism in siblings with schizophrenia-like psychosis due to Niemann-Pick disease type C.
|
19609713 |
2009 |
rs80358254
|
|
G |
0.800 |
GeneticVariation |
CLINVAR |
24 month-treatment with miglustat of three patients with Niemann-Pick disease type C: follow up using brain spectroscopy.
|
19013089 |
2009 |
rs80358254
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
The adult form of Niemann-Pick disease type C.
|
17003072 |
2007 |
rs80358254
|
|
G |
0.800 |
GeneticVariation |
CLINVAR |
The adult form of Niemann-Pick disease type C.
|
17003072 |
2007 |
rs80358254
|
|
A |
0.800 |
CausalMutation |
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 |
rs80358254
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Niemann-Pick disease type C: cataplexy and hypocretin in cerebrospinal fluid.
|
16778374 |
2006 |
rs80358254
|
|
|
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 |
rs80358254
|
|
G |
0.800 |
CausalMutation |
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 |
rs80358254
|
|
T |
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 |
rs80358254
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Subclinical course of adult visceral Niemann-Pick type C1 disease. A rare or underdiagnosed disorder?
|
16802107 |
2006 |
rs80358254
|
|
G |
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 |
rs80358254
|
|
G |
0.800 |
GeneticVariation |
CLINVAR |
Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlations.
|
16098014 |
2005 |
rs80358254
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlations.
|
16098014 |
2005 |
rs80358254
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Six novel NPC1 mutations in Chinese patients with Niemann-Pick disease type C.
|
15774455 |
2005 |