rs372030650
|
|
Niemann-Pick Disease, Type C1
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Reduced Myelin Water in the White Matter Tracts of Patients with Niemann-Pick Disease Type C.
|
26939636 |
2016 |
rs372030650
|
|
Niemann-Pick Disease, Type C1
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Altered localization and functionality of TAR DNA Binding Protein 43 (TDP-43) in niemann- pick disease type C.
|
27193329 |
2016 |
rs372030650
|
|
Niemann-Pick Disease, Type C1
|
A |
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 |
rs372030650
|
|
Niemann-Pick Disease, Type C1
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Genetic screening for Niemann-Pick disease type C in adults with neurological and psychiatric symptoms: findings from the ZOOM study.
|
23773996 |
2013 |
rs372030650
|
|
Niemann-Pick Disease, Type C1
|
A |
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 |
rs372030650
|
|
Niemann-Pick Disease, Type C1
|
A |
0.800 |
CausalMutation
|
CLINVAR |
NPC1: Complete genomic sequence, mutation analysis, and characterization of haplotypes.
|
11754101 |
2002 |
rs372030650
|
|
Niemann-Pick Disease, Type C1
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Identification of novel mutations in the NPC1 gene in German patients with Niemann-Pick C disease.
|
12408188 |
2002 |
rs372030650
|
|
Niemann-Pick Disease, Type C1
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Identification of novel mutations in the NPC1 gene in German patients with Niemann-Pick C disease.
|
12408188 |
2002 |
rs372030650
|
|
Niemann-Pick Disease, Type C1
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
NPC1: Complete genomic sequence, mutation analysis, and characterization of haplotypes.
|
11754101 |
2002 |
rs372030650
|
|
Niemann-Pick Disease, Type C1
|
A |
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 |
rs372030650
|
|
Niemann-Pick Disease, Type C1
|
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 |
rs372030650
|
|
Niemann-Pick Disease, Type C1
|
A |
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 |