rs267606822
|
TTLL5;FLVCR2
|
Encephaloclastic Proliferative Vasculopathy
|
|
0.800 |
GeneticVariation |
UNIPROT |
Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next-generation exome sequencing.
|
20518025 |
2010 |
rs267606824
|
TTLL5;FLVCR2
|
Encephaloclastic Proliferative Vasculopathy
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome).
|
20206334 |
2010 |
rs267606824
|
TTLL5;FLVCR2
|
Encephaloclastic Proliferative Vasculopathy
|
|
0.800 |
GeneticVariation |
UNIPROT |
High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy.
|
20690116 |
2010 |
rs267606824
|
TTLL5;FLVCR2
|
Encephaloclastic Proliferative Vasculopathy
|
|
0.800 |
GeneticVariation |
UNIPROT |
Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next-generation exome sequencing.
|
20518025 |
2010 |
rs267606825
|
TTLL5;FLVCR2
|
Encephaloclastic Proliferative Vasculopathy
|
|
0.800 |
GeneticVariation |
UNIPROT |
High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy.
|
20690116 |
2010 |
rs267606825
|
TTLL5;FLVCR2
|
Encephaloclastic Proliferative Vasculopathy
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome).
|
20206334 |
2010 |
rs267606825
|
TTLL5;FLVCR2
|
Encephaloclastic Proliferative Vasculopathy
|
|
0.800 |
GeneticVariation |
UNIPROT |
Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next-generation exome sequencing.
|
20518025 |
2010 |
rs199882533
|
Entrez Id: |
23093 |
Gene Symbol: |
TTLL5 |
TTLL5
|
CONE-ROD DYSTROPHY 19
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs199882533
|
Entrez Id: |
23093 |
Gene Symbol: |
TTLL5 |
TTLL5
|
CONE-ROD DYSTROPHY 19
|
|
0.800 |
GeneticVariation |
UNIPROT |
|
|
|
rs199882533
|
Entrez Id: |
23093 |
Gene Symbol: |
TTLL5 |
TTLL5
|
CONE-ROD DYSTROPHY 19
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs267606822
|
TTLL5;FLVCR2
|
Encephaloclastic Proliferative Vasculopathy
|
G |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs267606824
|
TTLL5;FLVCR2
|
Encephaloclastic Proliferative Vasculopathy
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs267606825
|
TTLL5;FLVCR2
|
Encephaloclastic Proliferative Vasculopathy
|
G |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs267606825
|
TTLL5;FLVCR2
|
Encephaloclastic Proliferative Vasculopathy
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|