rs72556554
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Inflammatory myopathy in a patient with Aicardi-Goutières syndrome.
|
28089741 |
2017 |
rs72556554
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates.
|
27391121 |
2016 |
rs121908117
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Exonuclease TREX1 degrades double-stranded DNA to prevent spontaneous lupus-like inflammatory disease.
|
25848017 |
2015 |
rs72556554
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
|
25604658 |
2015 |
rs72556554
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Genome-wide DNA hypomethylation and RNA:DNA hybrid accumulation in Aicardi-Goutières syndrome.
|
26182405 |
2015 |
rs121908117
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
A TREX1 mutation causing cerebral vasculopathy in a patient with familial chilblain lupus.
|
23989343 |
2013 |
rs121908117
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Heterozygous TREX1 p.Asp18Asn mutation can cause variable neurological symptoms in a family with Aicardi-Goutieres syndrome/familial chilblain lupus.
|
22829693 |
2013 |
rs121908117
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
The TREX1 C-terminal region controls cellular localization through ubiquitination.
|
23979357 |
2013 |
rs72556554
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
The TREX1 C-terminal region controls cellular localization through ubiquitination.
|
23979357 |
2013 |
rs72556554
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Heterozygous TREX1 mutations in early-onset cerebrovascular disease.
|
23881107 |
2013 |
rs78408272
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
The TREX1 C-terminal region controls cellular localization through ubiquitination.
|
23979357 |
2013 |
rs78846775
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
The TREX1 C-terminal region controls cellular localization through ubiquitination.
|
23979357 |
2013 |
rs72556554
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
The TREX1 exonuclease R114H mutation in Aicardi-Goutières syndrome and lupus reveals dimeric structure requirements for DNA degradation activity.
|
21937424 |
2011 |
rs72556554
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Evaluation of the TREX1 gene in a large multi-ancestral lupus cohort.
|
21270825 |
2011 |
rs121908117
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
The cytosolic exonuclease TREX1 inhibits the innate immune response to human immunodeficiency virus type 1.
|
20871604 |
2010 |
rs121908117
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome.
|
20799324 |
2010 |
rs121908117
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.
|
20131292 |
2010 |
rs121908117
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome.
|
20799324 |
2010 |
rs72556554
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome.
|
20799324 |
2010 |
rs72556554
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.
|
20131292 |
2010 |
rs78408272
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.
|
20131292 |
2010 |
rs78408272
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome.
|
20799324 |
2010 |
rs78846775
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.
|
20131292 |
2010 |
rs78846775
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome.
|
20799324 |
2010 |
rs121908117
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
The TREX1 double-stranded DNA degradation activity is defective in dominant mutations associated with autoimmune disease.
|
18805785 |
2008 |