|
rs75184679
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Late diagnosis and atypical brain imaging of Aicardi-Goutières syndrome: are we failing to diagnose Aicardi-Goutières syndrome-2?
|
28762473 |
2017 |
|
rs75184679
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly.
|
26846091 |
2016 |
|
rs75184679
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly.
|
26846091 |
2016 |
|
rs75184679
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Reduction of hRNase H2 activity in Aicardi-Goutières syndrome cells leads to replication stress and genome instability.
|
25274781 |
2015 |
|
rs75184679
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Genome-wide DNA hypomethylation and RNA:DNA hybrid accumulation in Aicardi-Goutières syndrome.
|
26182405 |
2015 |
|
rs75184679
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Spastic paraparesis and marked improvement of leukoencephalopathy in Aicardi-Goutières syndrome.
|
25343331 |
2014 |
|
rs75184679
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia.
|
25243380 |
2014 |
|
rs75184679
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
The structural and biochemical characterization of human RNase H2 complex reveals the molecular basis for substrate recognition and Aicardi-Goutières syndrome defects.
|
21177858 |
2011 |
|
rs75184679
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.
|
20131292 |
2010 |
|
rs75184679
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.
|
20131292 |
2010 |
|
rs75184679
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.
|
20131292 |
2010 |
|
rs75184679
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Contributions of the two accessory subunits, RNASEH2B and RNASEH2C, to the activity and properties of the human RNase H2 complex.
|
19015152 |
2009 |
|
rs75184679
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Elevated pterins in cerebral spinal fluid--biochemical marker of Aicardi-Goutières syndrome.
|
19694776 |
2009 |
|
rs75184679
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
RNaseH2 mutants that cause Aicardi-Goutieres syndrome are active nucleases.
|
19034401 |
2009 |
|
rs75184679
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Aicardi-Goutières syndrome: description of a late onset case.
|
18754903 |
2008 |
|
rs75184679
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clinical and molecular phenotype of Aicardi-Goutieres syndrome.
|
17846997 |
2007 |
|
rs75184679
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Clinical and molecular phenotype of Aicardi-Goutieres syndrome.
|
17846997 |
2007 |
|
rs75184679
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Clinical and molecular phenotype of Aicardi-Goutieres syndrome.
|
17846997 |
2007 |
|
rs75184679
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection.
|
16845400 |
2006 |
|
rs75184679
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection.
|
16845400 |
2006 |
|
rs75184679
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection.
|
16845400 |
2006 |