rs1388367359
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Two novel UBR1 gene mutations ın a patient with Johanson Blizzard Syndrome: A mild phenotype without mental retardation.
|
26149651 |
2015 |
rs140972409
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Two novel UBR1 gene mutations ın a patient with Johanson Blizzard Syndrome: A mild phenotype without mental retardation.
|
26149651 |
2015 |
rs768686147
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Two novel UBR1 gene mutations ın a patient with Johanson Blizzard Syndrome: A mild phenotype without mental retardation.
|
26149651 |
2015 |
rs1388367359
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mutations in the human UBR1 gene and the associated phenotypic spectrum.
|
24599544 |
2014 |
rs140972409
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mutations in the human UBR1 gene and the associated phenotypic spectrum.
|
24599544 |
2014 |
rs768686147
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mutations in the human UBR1 gene and the associated phenotypic spectrum.
|
24599544 |
2014 |
rs1388367359
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Ubiquitin ligases of the N-end rule pathway: assessment of mutations in UBR1 that cause the Johanson-Blizzard syndrome.
|
21931868 |
2011 |
rs1388367359
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Johanson-Blizzard syndrome.
|
22072859 |
2011 |
rs140972409
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Ubiquitin ligases of the N-end rule pathway: assessment of mutations in UBR1 that cause the Johanson-Blizzard syndrome.
|
21931868 |
2011 |
rs140972409
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Johanson-Blizzard syndrome.
|
22072859 |
2011 |
rs768686147
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Johanson-Blizzard syndrome.
|
22072859 |
2011 |
rs768686147
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Ubiquitin ligases of the N-end rule pathway: assessment of mutations in UBR1 that cause the Johanson-Blizzard syndrome.
|
21931868 |
2011 |
rs1388367359
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome).
|
16311597 |
2005 |
rs140972409
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome).
|
16311597 |
2005 |
rs768686147
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome).
|
16311597 |
2005 |
rs1158249054
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs119477054
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs119477055
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1235541565
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs1480939799
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs797045112
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|